A32T (p.Ala32Thr) variant of MYLK (Q15746)
A32T (p.Ala32Thr) in MYLK (Q15746) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
A32T (p.Ala32Thr) variant details
- p.Ala32Thr
- rs948848516
- NCI-TCGA Cosmic COSV1006
- cosmic curated COSV10065
- TOPMed rs948848516
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.343
- REVEL 0.15
- CADD 23.60
- PolyPhen-2 0.91
- SIFT 0.06
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available