K53T (p.Lys53Thr) variant of BBS1 (BBSome complex member BBS1)
K53T (p.Lys53Thr) in BBS1 (BBSome complex member BBS1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data and structural context.
K53T (p.Lys53Thr) variant details
- p.Lys53Thr
- ExAC rs752658686
- gnomAD rs752658686
- Missense
- Variant Prioritization Score for Impact Estimate 0.778
- REVEL 0.84
- CADD 33.00
- PolyPhen-2 0.98
- SIFT 0.00
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available