P76T (p.Pro76Thr) variant of MYL2 (P10916)
P76T (p.Pro76Thr) in MYL2 (P10916) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data and structural context.
P76T (p.Pro76Thr) variant details
- p.Pro76Thr
- TOPMed rs1193986376
- gnomAD rs1193986376
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.638
- REVEL 0.60
- CADD 26.80
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available