A35P (p.Ala35Pro) variant of PCDH19 (Protocadherin-19)
A35P (p.Ala35Pro) 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.
A35P (p.Ala35Pro) variant details
- p.Ala35Pro
- rs2147542686
- ClinGen CA414011368
- ClinVar RCV002048545
- Ensembl rs2147542686
- Uncertain significance
- Developmental and epileptic encephalopathy, 9
- Missense
- Variant Prioritization Score for Impact Estimate 0.286
- AlphaMissense 0.18
- MetaLR 0.04
- MetaSVM -1.07
- PolyPhen-2 0.11
- SIFT 0.14
- EVE 0.15
- ClinVar: Uncertain significance (Developmental and epileptic encephalopathy, 9)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available