A2S (p.Ala2Ser) variant of BBS4 (BBSome complex member BBS4)
A2S (p.Ala2Ser) in BBS4 (BBSome complex member BBS4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
A2S (p.Ala2Ser) variant details
- p.Ala2Ser
- gnomAD 15-72686231-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.452
- REVEL 0.34
- MetaLR 0.47
- MetaSVM -0.13
- CADD 24.30
- PolyPhen-2 0.94
- SIFT 0.10
- Population evidence available
- Structural context available
- Literature evidence available