A32E (p.Ala32Glu) variant of BBS2 (BBSome complex member BBS2)
A32E (p.Ala32Glu) in BBS2 (BBSome complex member BBS2) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
A32E (p.Ala32Glu) variant details
- p.Ala32Glu
- NCI-TCGA Cosmic COSV9980
- cosmic curated COSV99802
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.462
- REVEL 0.33
- CADD 25.30
- PolyPhen-2 0.23
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available