P7Q (p.Pro7Gln) variant of HMGCS2 (P54868)
P7Q (p.Pro7Gln) 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 0.49 / 1. The record also includes population frequency data and structural context.
P7Q (p.Pro7Gln) variant details
- p.Pro7Gln
- NCI-TCGA Cosmic COSV1010
- cosmic curated COSV10102
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.494
- REVEL 0.41
- CADD 21.20
- PolyPhen-2 0.19
- SIFT 0.16
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available
- Structural context available