A85V (p.Ala85Val) variant of CRMP1 (Q14194)
A85V (p.Ala85Val) in CRMP1 (Q14194) is a missense change. Clinical records from ClinVar, EBI, 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 0.39 / 1. The record also includes population frequency data and structural context.
A85V (p.Ala85Val) variant details
- p.Ala85Val
- cosmic curated COSV61478
- ExAC rs201508359
- TOPMed rs201508359
- gnomAD rs201508359
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.387
- REVEL 0.18
- ESM-1b 1.00
- AlphaMissense 0.13
- CADD 19.80
- PolyPhen-2 0.07
- SIFT 0.17
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 4.6e-05)
- Structural context available