P3T (p.Pro3Thr) variant of MYL2 (P10916)
P3T (p.Pro3Thr) in MYL2 (P10916) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data and structural context.
P3T (p.Pro3Thr) variant details
- p.Pro3Thr
- ExAC rs763957786
- TOPMed rs763957786
- gnomAD rs763957786
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.563
- REVEL 0.46
- AlphaMissense 0.18
- MetaLR 0.46
- MetaSVM -0.39
- CADD 26.40
- PolyPhen-2 0.99
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available