T16A (p.Thr16Ala) variant of BBS4 (BBSome complex member BBS4)
T16A (p.Thr16Ala) in BBS4 (BBSome complex member BBS4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data and structural context.
T16A (p.Thr16Ala) variant details
- p.Thr16Ala
- Ensembl rs929043364
- Missense
- Variant Prioritization Score for Impact Estimate 0.131
- REVEL 0.08
- MetaLR 0.12
- MetaSVM -0.95
- CADD 1.71
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the African/African-American population (allele frequency 0.00031)
- Structural context available