V31I (p.Val31Ile) variant of HMGCS2 (P54868)
V31I (p.Val31Ile) in HMGCS2 (P54868) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
V31I (p.Val31Ile) variant details
- p.Val31Ile
- gnomAD rs1244351356
- Missense
- Variant Prioritization Score for Impact Estimate 0.252
- REVEL 0.24
- CADD 8.23
- PolyPhen-2 0.01
- SIFT 0.17
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available