A50T (p.Ala50Thr) variant of MYLK (Q15746)
A50T (p.Ala50Thr) 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 0.45 / 1. The record also includes population frequency data and structural context.
A50T (p.Ala50Thr) variant details
- p.Ala50Thr
- rs751888783
- NCI-TCGA Cosmic COSV6062
- cosmic curated COSV60620
- ExAC rs751888783
- Uncertain significance
- Aortic aneurysm, familial thoracic 7
- Missense
- Variant Prioritization Score for Impact Estimate 0.448
- REVEL 0.19
- CADD 26.80
- PolyPhen-2 1.00
- SIFT 0.01
- ClinVar: Uncertain significance (Aortic aneurysm, familial thoracic 7)
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available