V55A (p.Val55Ala) variant of BBS1 (BBSome complex member BBS1)
V55A (p.Val55Ala) in BBS1 (BBSome complex member BBS1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
V55A (p.Val55Ala) variant details
- p.Val55Ala
- gnomAD 11-66514410-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.498
- REVEL 0.57
- CADD 22.70
- PolyPhen-2 0.01
- SIFT 0.06
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available