R35S (p.Arg35Ser) variant of HMGCS2 (P54868)
R35S (p.Arg35Ser) in HMGCS2 (P54868) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
R35S (p.Arg35Ser) variant details
- p.Arg35Ser
- gnomAD rs1231210408
- Missense
- Variant Prioritization Score for Impact Estimate 0.285
- REVEL 0.19
- CADD 22.50
- PolyPhen-2 0.00
- SIFT 0.21
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available