K83N (p.Lys83Asn) variant of HMGCS2 (P54868)
K83N (p.Lys83Asn) in HMGCS2 (P54868) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data and structural context.
K83N (p.Lys83Asn) variant details
- p.Lys83Asn
- gnomAD rs1420068119
- Missense
- Variant Prioritization Score for Impact Estimate 0.54
- REVEL 0.67
- CADD 24.20
- PolyPhen-2 0.97
- SIFT 0.00
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available