K75T (p.Lys75Thr) variant of HMGCS2 (P54868)
K75T (p.Lys75Thr) in HMGCS2 (P54868) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
K75T (p.Lys75Thr) variant details
- p.Lys75Thr
- ExAC rs774598305
- gnomAD rs774598305
- Missense
- Variant Prioritization Score for Impact Estimate 0.336
- REVEL 0.28
- CADD 22.60
- PolyPhen-2 0.06
- SIFT 0.15
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available