L41R (p.Leu41Arg) variant of BBS1 (BBSome complex member BBS1)
L41R (p.Leu41Arg) in BBS1 (BBSome complex member BBS1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data, published literature, and structural context.
L41R (p.Leu41Arg) variant details
- p.Leu41Arg
- gnomAD 11-66511087-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.798
- REVEL 0.88
- CADD 33.00
- PolyPhen-2 0.75
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available