A60S (p.Ala60Ser) variant of PCDH19 (Protocadherin-19)
A60S (p.Ala60Ser) in PCDH19 (Protocadherin-19) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
A60S (p.Ala60Ser) variant details
- p.Ala60Ser
- gnomAD rs1303036388
- Missense
- Variant Prioritization Score for Impact Estimate 0.238
- REVEL 0.08
- CADD 15.10
- PolyPhen-2 0.25
- SIFT 0.39
- Most common in the East Asian population (allele frequency 0.00029)
- Structural context available