L54V (p.Leu54Val) variant of BBS1 (BBSome complex member BBS1)
L54V (p.Leu54Val) in BBS1 (BBSome complex member BBS1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data, published literature, and structural context.
L54V (p.Leu54Val) variant details
- p.Leu54Val
- gnomAD 11-66514406-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.773
- REVEL 0.84
- CADD 26.50
- PolyPhen-2 0.81
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available