P51S (p.Pro51Ser) variant of HMGCS2 (P54868)
P51S (p.Pro51Ser) 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 0.81 / 1. The record also includes population frequency data and structural context.
P51S (p.Pro51Ser) variant details
- p.Pro51Ser
- NCI-TCGA Cosmic COSV1010
- cosmic curated COSV10102
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.812
- REVEL 0.86
- CADD 26.20
- PolyPhen-2 1.00
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available