P82T (p.Pro82Thr) variant of MYH6 (Myosin-6)
P82T (p.Pro82Thr) in MYH6 (Myosin-6) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data and structural context.
P82T (p.Pro82Thr) variant details
- p.Pro82Thr
- ExAC rs754260713
- TOPMed rs754260713
- gnomAD rs754260713
- Uncertain significance
- not provided; Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.707
- REVEL 0.66
- CADD 26.70
- PolyPhen-2 0.91
- SIFT 0.01
- ClinVar: Uncertain significance (not provided; Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available