A43V (p.Ala43Val) variant of PCDH19 (Protocadherin-19)
A43V (p.Ala43Val) in PCDH19 (Protocadherin-19) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
A43V (p.Ala43Val) variant details
- p.Ala43Val
- rs1064795511
- ClinGen CA16621151
- ClinVar RCV000478041
- TOPMed rs1064795511
- Likely pathogenic
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.416
- REVEL 0.23
- CADD 23.60
- PolyPhen-2 0.27
- SIFT 0.00
- ClinVar: Likely pathogenic (not provided)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the African/African-American population (allele frequency 6.5e-05)
- Structural context available