V17A (p.Val17Ala) variant of MYL2 (P10916)
V17A (p.Val17Ala) in MYL2 (P10916) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Myopathy, myofibrillar, 12, infantile-onset, with cardiomyopathy; Hypertrophic c. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes published literature and structural context.
V17A (p.Val17Ala) variant details
- p.Val17Ala
- rs2136777356
- ClinGen CA386700283
- ClinVar RCV001881856
- ClinVar RCV002478254
- Uncertain significance
- Myopathy, myofibrillar, 12, infantile-onset, with cardiomyopathy; Hypertrophic c
- Missense
- Variant Prioritization Score for Impact Estimate 0.722
- AlphaMissense 0.87
- MetaLR 0.71
- MetaSVM 0.53
- PolyPhen-2 1.00
- SIFT 0.03
- MutPred 0.54
- ClinVar: Uncertain significance (Myopathy, myofibrillar, 12, infantile-onset, with cardiomyopathy)
- 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)