Q65K (p.Gln65Lys) variant of BBS1 (BBSome complex member BBS1)
Q65K (p.Gln65Lys) in BBS1 (BBSome complex member BBS1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
Q65K (p.Gln65Lys) variant details
- p.Gln65Lys
- ExAC rs756964235
- gnomAD rs756964235
- Missense
- Variant Prioritization Score for Impact Estimate 0.371
- REVEL 0.27
- CADD 15.90
- PolyPhen-2 0.00
- SIFT 0.92
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available