A46V (p.Ala46Val) variant of PCDH19 (Protocadherin-19)
A46V (p.Ala46Val) in PCDH19 (Protocadherin-19) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
A46V (p.Ala46Val) variant details
- p.Ala46Val
- cosmic curated COSV10454
- gnomAD rs1391222418
- Missense
- Variant Prioritization Score for Impact Estimate 0.444
- REVEL 0.26
- CADD 24.00
- PolyPhen-2 1.00
- SIFT 0.13
- Population evidence available
- Structural context available