V82I (p.Val82Ile) variant of BBS2 (BBSome complex member BBS2)
V82I (p.Val82Ile) in BBS2 (BBSome complex member BBS2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of BBS2-related disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
V82I (p.Val82Ile) variant details
- p.Val82Ile
- rs376883866
- cosmic curated COSV55325
- ESP rs376883866
- ExAC rs376883866
- Uncertain significance
- BBS2-related disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.33
- REVEL 0.24
- CADD 8.38
- PolyPhen-2 0.00
- SIFT 0.43
- ClinVar: Uncertain significance (BBS2-related disorder)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available