V141A (p.Val141Ala) variant of HMGCS2 (P54868)
V141A (p.Val141Ala) in HMGCS2 (P54868) is a missense change. Clinical records from EBI and UniProt describe it as likely pathogenic. 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.
V141A (p.Val141Ala) variant details
- p.Val141Ala
- TOPMed rs1406920400
- gnomAD rs1406920400
- Likely pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.725
- REVEL 0.81
- CADD 26.50
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available