A95V (p.Ala95Val) variant of CRMP1 (Q14194)
A95V (p.Ala95Val) in CRMP1 (Q14194) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of CRMP1-related neurodevelopmental disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
A95V (p.Ala95Val) variant details
- p.Ala95Val
- rs779175259
- NCI-TCGA Cosmic COSV6147
- NCI-TCGA Cosmic COSV6148
- cosmic curated COSV61483
- Uncertain significance
- CRMP1-related neurodevelopmental disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.393
- REVEL 0.25
- ESM-1b 1.00
- AlphaMissense 0.66
- CADD 17.30
- PolyPhen-2 0.00
- SIFT 0.47
- ClinVar: Uncertain significance (CRMP1-related neurodevelopmental disorder)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 4.1e-05)
- Structural context available