A54P (p.Ala54Pro) variant of MYL2 (P10916)
A54P (p.Ala54Pro) 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 0.54 / 1. The record also includes population frequency data and structural context.
A54P (p.Ala54Pro) variant details
- p.Ala54Pro
- gnomAD rs1171745073
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.542
- REVEL 0.46
- AlphaMissense 0.99
- MetaLR 0.32
- MetaSVM -0.44
- CADD 22.80
- PolyPhen-2 0.03
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available