V114I (p.Val114Ile) variant of CACNA1A (O00555)
V114I (p.Val114Ile) in CACNA1A (O00555) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data and structural context.
V114I (p.Val114Ile) variant details
- p.Val114Ile
- cosmic curated COSV64202
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.575
- REVEL 0.45
- MetaLR 0.55
- MetaSVM 0.20
- CADD 25.60
- PolyPhen-2 0.70
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- Structural context available