G53S (p.Gly53Ser) variant of PCDH15 (Protocadherin-15)
G53S (p.Gly53Ser) in PCDH15 (Protocadherin-15) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data.
G53S (p.Gly53Ser) variant details
- p.Gly53Ser
- gnomAD rs1242693395
- Missense
- Variant Prioritization Score for Impact Estimate 0.703
- MetaLR 0.42
- MetaSVM -0.34
- CADD 34.00
- PolyPhen-2 0.53
- SIFT 0.00
- Most common in the East Asian population (allele frequency 2.5e-05)