P48A (p.Pro48Ala) variant of MYL3 (Myosin light chain 3)
P48A (p.Pro48Ala) in MYL3 (Myosin light chain 3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes structural context.
P48A (p.Pro48Ala) variant details
- p.Pro48Ala
- rs2106910525
- ClinGen CA352498854
- ClinVar RCV001760676
- Ensembl rs2106910525
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.347
- AlphaMissense 0.06
- MetaLR 0.25
- MetaSVM -0.89
- PolyPhen-2 0.00
- SIFT 0.68
- EVE 0.07
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available