P21T (p.Pro21Thr) variant of BBS4 (BBSome complex member BBS4)
P21T (p.Pro21Thr) in BBS4 (BBSome complex member BBS4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data, published literature, and structural context.
P21T (p.Pro21Thr) variant details
- p.Pro21Thr
- gnomAD 15-72695213-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.128
- REVEL 0.04
- MetaLR 0.10
- MetaSVM -1.02
- CADD 7.70
- PolyPhen-2 0.00
- SIFT 0.08
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available
- Literature evidence available