T8K (p.Thr8Lys) variant of BBS4 (BBSome complex member BBS4)
T8K (p.Thr8Lys) in BBS4 (BBSome complex member BBS4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data, published literature, and structural context.
T8K (p.Thr8Lys) variant details
- p.Thr8Lys
- gnomAD 15-72686250-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.139
- REVEL 0.12
- MetaLR 0.16
- MetaSVM -0.86
- CADD 5.04
- PolyPhen-2 0.01
- SIFT 1.00
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available
- Literature evidence available