I31V (p.Ile31Val) variant of BCR (P11274)
I31V (p.Ile31Val) in BCR (P11274) 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 0.19 / 1. The record also includes population frequency data and structural context.
I31V (p.Ile31Val) variant details
- p.Ile31Val
- TOPMed rs1271305252
- gnomAD rs1271305252
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.193
- REVEL 0.11
- CADD 22.60
- PolyPhen-2 0.14
- SIFT 0.04
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available