P27H (p.Pro27His) variant of MYL3 (Myosin light chain 3)
P27H (p.Pro27His) in MYL3 (Myosin light chain 3) 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 0.41 / 1. The record also includes population frequency data and structural context.
P27H (p.Pro27His) variant details
- p.Pro27His
- gnomAD rs1210373907
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.411
- REVEL 0.31
- CADD 22.70
- PolyPhen-2 0.53
- SIFT 0.10
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available