V5F (p.Val5Phe) variant of ATP1A1 (P05023)
V5F (p.Val5Phe) in ATP1A1 (P05023) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Inborn genetic diseases; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
V5F (p.Val5Phe) variant details
- p.Val5Phe
- rs756724088
- ClinGen CA1024999
- ClinVar RCV002027274
- ClinVar RCV003339901
- Conflicting interpretations
- Inborn genetic diseases; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.396
- REVEL 0.33
- AlphaMissense 0.08
- MetaLR 0.49
- MetaSVM -0.13
- CADD 22.80
- PolyPhen-2 0.01
- ClinVar: Conflicting classifications of pathogenicity (Inborn genetic diseases; not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Amish population (allele frequency 0.17)
- Structural context available
- 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)