V8M (p.Val8Met) variant of PCDH19 (Protocadherin-19)
V8M (p.Val8Met) in PCDH19 (Protocadherin-19) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data and structural context.
V8M (p.Val8Met) variant details
- p.Val8Met
- gnomAD rs1255191262
- Missense
- Variant Prioritization Score for Impact Estimate 0.193
- REVEL 0.12
- CADD 15.70
- PolyPhen-2 0.00
- SIFT 0.37
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available