L94V (p.Leu94Val) variant of PCDH15 (Protocadherin-15)
L94V (p.Leu94Val) in PCDH15 (Protocadherin-15) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data.
L94V (p.Leu94Val) variant details
- p.Leu94Val
- 1000Genomes rs554296133
- ExAC rs554296133
- gnomAD rs554296133
- Missense
- Variant Prioritization Score for Impact Estimate 0.641
- MetaLR 0.32
- MetaSVM -0.43
- CADD 25.30
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the 1KG:GIH population (allele frequency 0.01)