I219V (p.Ile219Val) variant of CACNA1A (O00555)
I219V (p.Ile219Val) in CACNA1A (O00555) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Disorder of sexual differentiation. The available variant effect predictions contribute to a CATVariant prioritization score of 0.94 / 1. The record also includes structural context.
I219V (p.Ile219Val) variant details
- p.Ile219Val
- rs2059190992
- ClinGen CA404348654
- cosmic curated COSV10080
- ClinVar RCV001568320
- Pathogenic
- Disorder of sexual differentiation
- Missense
- Variant Prioritization Score for Impact Estimate 0.939
- AlphaMissense 0.96
- MetaLR 0.95
- MetaSVM 1.10
- PolyPhen-2 1.00
- SIFT 0.03
- MutPred 0.79
- ClinVar: Pathogenic (Disorder of sexual differentiation)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available