V42M (p.Val42Met) variant of PCDH19 (Protocadherin-19)
V42M (p.Val42Met) in PCDH19 (Protocadherin-19) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Developmental and epileptic encephalopathy, 9. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes structural context.
V42M (p.Val42Met) variant details
- p.Val42Met
- rs767840869
- ClinGen CA414011324
- cosmic curated COSV10808
- ClinVar RCV001771308
- Uncertain significance
- not provided; Developmental and epileptic encephalopathy, 9
- Missense
- Variant Prioritization Score for Impact Estimate 0.387
- AlphaMissense 0.82
- MetaLR 0.19
- MetaSVM -0.72
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.36
- ClinVar: Uncertain significance (not provided; Developmental and epileptic encephalopathy, 9)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available