V114L (p.Val114Leu) variant of PCDH19 (Protocadherin-19)
V114L (p.Val114Leu) in PCDH19 (Protocadherin-19) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Developmental and epileptic encephalopathy, 9. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
V114L (p.Val114Leu) variant details
- p.Val114Leu
- ExAC rs751708323
- gnomAD rs751708323
- Uncertain significance
- Developmental and epileptic encephalopathy, 9
- Missense
- Variant Prioritization Score for Impact Estimate 0.336
- REVEL 0.10
- CADD 19.50
- PolyPhen-2 0.31
- SIFT 0.55
- ClinVar: Uncertain significance (Developmental and epileptic encephalopathy, 9)
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 3.3e-05)
- Structural context available