L20V (p.Leu20Val) variant of PCDH15 (Protocadherin-15)
L20V (p.Leu20Val) in PCDH15 (Protocadherin-15) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data.
L20V (p.Leu20Val) variant details
- p.Leu20Val
- cosmic curated COSV57343
- Missense
- Variant Prioritization Score for Impact Estimate 0.12
- MetaLR 0.15
- MetaSVM -0.94
- CADD 0.10
- SIFT 0.06
- Most common in the East Asian population (allele frequency 0.00019)