R62L (p.Arg62Leu) variant of PCDH19 (Protocadherin-19)
R62L (p.Arg62Leu) in PCDH19 (Protocadherin-19) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data and structural context.
R62L (p.Arg62Leu) variant details
- p.Arg62Leu
- ExAC rs775259534
- gnomAD rs775259534
- Missense
- Variant Prioritization Score for Impact Estimate 0.647
- REVEL 0.60
- CADD 24.90
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Finnish in Finland (FIN) population (allele frequency 2.7e-05)
- Structural context available