A10P (p.Ala10Pro) variant of MYL2 (P10916)
A10P (p.Ala10Pro) 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 10. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes published literature and structural context.
A10P (p.Ala10Pro) variant details
- p.Ala10Pro
- rs730880942
- ClinGen CA386700323
- ClinVar RCV001969620
- ExAC rs730880942
- Uncertain significance
- Hypertrophic cardiomyopathy 10
- Missense
- Variant Prioritization Score for Impact Estimate 0.406
- AlphaMissense 0.14
- MetaLR 0.32
- MetaSVM -0.79
- PolyPhen-2 0.00
- SIFT 0.37
- MutPred 0.32
- ClinVar: Uncertain significance (Hypertrophic cardiomyopathy 10)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Nonsyndromic Hypertrophic Cardiomyopathy Overview. (PMID 20301725)
- Cited in: Clinical utility gene card for: hypertrophic cardiomyopathy (type 1-14). (PMID 21267010)