K25N (p.Lys25Asn) variant of BBS4 (BBSome complex member BBS4)
K25N (p.Lys25Asn) in BBS4 (BBSome complex member BBS4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
K25N (p.Lys25Asn) variant details
- p.Lys25Asn
- gnomAD 15-72695227-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.315
- REVEL 0.13
- MetaLR 0.16
- MetaSVM -0.88
- CADD 24.00
- PolyPhen-2 0.12
- SIFT 0.15
- Population evidence available
- Structural context available
- Literature evidence available