T24A (p.Thr24Ala) variant of MYL2 (P10916)
T24A (p.Thr24Ala) in MYL2 (P10916) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hypertrophic cardiomyopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes structural context.
T24A (p.Thr24Ala) variant details
- p.Thr24Ala
- rs2071703872
- ClinGen CA386700241
- cosmic curated COSV57407
- ClinVar RCV004016819
- Uncertain significance
- Hypertrophic cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.347
- AlphaMissense 0.08
- MetaLR 0.18
- MetaSVM -0.79
- PolyPhen-2 0.00
- SIFT 0.46
- MutPred 0.37
- ClinVar: Uncertain significance (Hypertrophic cardiomyopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available