V114A (p.Val114Ala) variant of PCDH19 (Protocadherin-19)
V114A (p.Val114Ala) in PCDH19 (Protocadherin-19) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
V114A (p.Val114Ala) variant details
- p.Val114Ala
- TOPMed rs1928464556
- Missense
- Variant Prioritization Score for Impact Estimate 0.352
- REVEL 0.22
- CADD 21.90
- Most common in the African/African-American population (allele frequency 3.2e-05)
- Structural context available