A199V (p.Ala199Val) variant of CRMP1 (Q14194)
A199V (p.Ala199Val) in CRMP1 (Q14194) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data and structural context.
A199V (p.Ala199Val) variant details
- p.Ala199Val
- cosmic curated COSV61481
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.572
- REVEL 0.37
- ESM-1b 1.00
- AlphaMissense 0.82
- CADD 22.40
- PolyPhen-2 0.15
- SIFT 0.11
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.0003)
- Structural context available