A52V (p.Ala52Val) variant of PCDH19 (Protocadherin-19)
A52V (p.Ala52Val) in PCDH19 (Protocadherin-19) is a missense change. Clinical records from ClinVar, EBI, 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 0.29 / 1. The record also includes structural context.
A52V (p.Ala52Val) variant details
- p.Ala52Val
- rs2147542586
- ClinGen CA414011258
- NCI-TCGA Cosmic COSV9972
- cosmic curated COSV99720
- Uncertain significance
- Developmental and epileptic encephalopathy, 9
- Missense
- Variant Prioritization Score for Impact Estimate 0.288
- AlphaMissense 0.07
- MetaLR 0.04
- MetaSVM -1.07
- PolyPhen-2 0.02
- SIFT 0.26
- EVE 0.21
- ClinVar: Uncertain significance (Developmental and epileptic encephalopathy, 9)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available