A60V (p.Ala60Val) variant of PCDH19 (Protocadherin-19)
A60V (p.Ala60Val) in PCDH19 (Protocadherin-19) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
A60V (p.Ala60Val) variant details
- p.Ala60Val
- ExAC rs762855456
- gnomAD rs762855456
- Missense
- Variant Prioritization Score for Impact Estimate 0.325
- REVEL 0.10
- CADD 18.70
- PolyPhen-2 0.25
- SIFT 0.39
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available