A2P (p.Ala2Pro) variant of BBS4 (BBSome complex member BBS4)
A2P (p.Ala2Pro) in BBS4 (BBSome complex member BBS4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
A2P (p.Ala2Pro) variant details
- p.Ala2Pro
- gnomAD 15-72686231-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.482
- REVEL 0.40
- MetaLR 0.48
- MetaSVM -0.11
- CADD 24.60
- PolyPhen-2 0.98
- SIFT 0.02
- Most common in the 1KG:MXL population (allele frequency 0.0081)
- Structural context available
- Literature evidence available