P7A (p.Pro7Ala) variant of HMGCS2 (P54868)
P7A (p.Pro7Ala) 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 0.32 / 1. The record also includes population frequency data and structural context.
P7A (p.Pro7Ala) variant details
- p.Pro7Ala
- rs757083410
- ExAC rs757083410
- gnomAD rs757083410
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.321
- REVEL 0.27
- CADD 17.10
- PolyPhen-2 0.02
- SIFT 0.06
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available