N53K (p.Asn53Lys) variant of SOST (Sclerostin)
N53K (p.Asn53Lys) in SOST (Sclerostin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data and structural context.
N53K (p.Asn53Lys) variant details
- p.Asn53Lys
- TOPMed rs1449266973
- gnomAD rs1449266973
- Missense
- Variant Prioritization Score for Impact Estimate 0.603
- REVEL 0.56
- CADD 26.00
- PolyPhen-2 0.99
- SIFT 0.01
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available