T47S (p.Thr47Ser) variant of BBS2 (BBSome complex member BBS2)
T47S (p.Thr47Ser) in BBS2 (BBSome complex member BBS2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data and structural context.
T47S (p.Thr47Ser) variant details
- p.Thr47Ser
- gnomAD rs1425726025
- Missense
- Variant Prioritization Score for Impact Estimate 0.181
- REVEL 0.08
- CADD 10.30
- PolyPhen-2 0.00
- SIFT 0.91
- Most common in the HGDP:YAKUT population (allele frequency 0.04)
- Structural context available