G14E (p.Gly14Glu) variant of PCDH15 (Protocadherin-15)
G14E (p.Gly14Glu) in PCDH15 (Protocadherin-15) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data.
G14E (p.Gly14Glu) variant details
- p.Gly14Glu
- cosmic curated COSV10520
- Missense
- Variant Prioritization Score for Impact Estimate 0.581
- MetaLR 0.47
- MetaSVM -0.40
- CADD 23.20
- PolyPhen-2 0.66
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)