V129I (p.Val129Ile) variant of HMGCS2 (P54868)
V129I (p.Val129Ile) in HMGCS2 (P54868) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data and structural context.
V129I (p.Val129Ile) variant details
- p.Val129Ile
- NCI-TCGA Cosmic COSV6556
- cosmic curated COSV65567
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.728
- REVEL 0.73
- CADD 24.40
- PolyPhen-2 0.84
- SIFT 0.01
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available