A32V (p.Ala32Val) variant of MYLK (Q15746)
A32V (p.Ala32Val) in MYLK (Q15746) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Aortic aneurysm, familial thoracic 7. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
A32V (p.Ala32Val) variant details
- p.Ala32Val
- TOPMed rs2064877993
- Uncertain significance
- Aortic aneurysm, familial thoracic 7
- Missense
- Variant Prioritization Score for Impact Estimate 0.418
- REVEL 0.22
- CADD 26.60
- PolyPhen-2 0.85
- SIFT 0.01
- ClinVar: Uncertain significance (Aortic aneurysm, familial thoracic 7)
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available