P66T (p.Pro66Thr) variant of BBS1 (BBSome complex member BBS1)
P66T (p.Pro66Thr) in BBS1 (BBSome complex member BBS1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data, published literature, and structural context.
P66T (p.Pro66Thr) variant details
- p.Pro66Thr
- gnomAD 11-66514442-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.591
- REVEL 0.59
- CADD 22.60
- PolyPhen-2 0.46
- SIFT 0.41
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available
- Literature evidence available