N17K (p.Asn17Lys) variant of BBS1 (BBSome complex member BBS1)
N17K (p.Asn17Lys) in BBS1 (BBSome complex member BBS1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
N17K (p.Asn17Lys) variant details
- p.Asn17Lys
- gnomAD 11-66511016-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.2
- REVEL 0.27
- CADD 4.60
- PolyPhen-2 0.02
- SIFT 0.72
- Population evidence available
- Structural context available
- Literature evidence available