V41M (p.Val41Met) variant of USH1C (Harmonin)
V41M (p.Val41Met) in USH1C (Harmonin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Inborn genetic diseases; Usher syndrome type 1C; not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
V41M (p.Val41Met) variant details
- p.Val41Met
- rs780439529
- ClinGen CA5905159
- ClinVar RCV001195265
- ClinVar RCV001664744
- Conflicting interpretations
- Inborn genetic diseases; Usher syndrome type 1C; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.457
- REVEL 0.21
- CADD 26.60
- PolyPhen-2 0.92
- SIFT 0.01
- ClinVar: Conflicting classifications of pathogenicity (Inborn genetic diseases; Usher syndrome type 1C; not specified)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available
- USH1C PDZ domain domainome 1.0: score -0.914
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)