A12G (p.Ala12Gly) variant of PCDH15 (Protocadherin-15)
A12G (p.Ala12Gly) in PCDH15 (Protocadherin-15) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data.
A12G (p.Ala12Gly) variant details
- p.Ala12Gly
- ExAC rs764456534
- gnomAD rs764456534
- Missense
- Variant Prioritization Score for Impact Estimate 0.3
- MetaLR 0.09
- MetaSVM -1.06
- CADD 17.40
- PolyPhen-2 0.00
- SIFT 0.01
- Most common in the African/African-American population (allele frequency 6e-05)