V55L (p.Val55Leu) variant of BBS1 (BBSome complex member BBS1)
V55L (p.Val55Leu) in BBS1 (BBSome complex member BBS1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
V55L (p.Val55Leu) variant details
- p.Val55Leu
- gnomAD 11-66514409-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.467
- REVEL 0.28
- CADD 22.50
- PolyPhen-2 0.01
- SIFT 0.15
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available