V44A (p.Val44Ala) variant of PCDH15 (Protocadherin-15)
V44A (p.Val44Ala) in PCDH15 (Protocadherin-15) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Usher syndrome type 1F; Autosomal recessive nonsyndromic hearing l. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data and published literature.
V44A (p.Val44Ala) variant details
- p.Val44Ala
- rs750302536
- ClinGen CA5506792
- ClinVar RCV000522599
- ClinVar RCV001004802
- Conflicting interpretations
- not provided; Usher syndrome type 1F; Autosomal recessive nonsyndromic hearing l
- Missense
- Variant Prioritization Score for Impact Estimate 0.513
- MetaLR 0.14
- MetaSVM -0.83
- CADD 25.60
- PolyPhen-2 0.57
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (not provided; Usher syndrome type 1F; Autosomal recessive nonsyn)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Middle Eastern population (allele frequency 0.0014)
- Cited in: Genetic Hearing Loss Overview. (PMID 20301607)
- Cited in: Usher Syndrome Type I. (PMID 20301442)