P3S (p.Pro3Ser) variant of MYL2 (P10916)
P3S (p.Pro3Ser) in MYL2 (P10916) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype; Hypertrophic cardiomyopathy 10; Hypertrophic cardiomyo. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
P3S (p.Pro3Ser) variant details
- p.Pro3Ser
- rs763957786
- ClinGen CA386700370
- ClinVar RCV002419166
- ClinVar RCV003776469
- Uncertain significance
- Cardiovascular phenotype; Hypertrophic cardiomyopathy 10; Hypertrophic cardiomyo
- Missense
- Variant Prioritization Score for Impact Estimate 0.487
- AlphaMissense 0.18
- MetaLR 0.46
- MetaSVM -0.39
- PolyPhen-2 0.99
- SIFT 0.66
- MutPred 0.37
- ClinVar: Uncertain significance (Cardiovascular phenotype; Hypertrophic cardiomyopathy 10; Hypert)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- 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)