P61T (p.Pro61Thr) variant of BBS2 (BBSome complex member BBS2)
P61T (p.Pro61Thr) in BBS2 (BBSome complex member BBS2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
P61T (p.Pro61Thr) variant details
- p.Pro61Thr
- Ensembl rs2144193503
- Missense
- Variant Prioritization Score for Impact Estimate 0.294
- REVEL 0.21
- CADD 17.90
- PolyPhen-2 0.00
- SIFT 0.62
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available