W23C (p.Trp23Cys) variant of BBS1 (BBSome complex member BBS1)
W23C (p.Trp23Cys) in BBS1 (BBSome complex member BBS1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes population frequency data, published literature, and structural context.
W23C (p.Trp23Cys) variant details
- p.Trp23Cys
- gnomAD 11-66511034-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.894
- REVEL 0.95
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available