P74S (p.Pro74Ser) variant of MYL2 (P10916)
P74S (p.Pro74Ser) in MYL2 (P10916) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Hypertrophic cardiomyopathy 10. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes published literature and structural context.
P74S (p.Pro74Ser) variant details
- p.Pro74Ser
- rs2136772247
- ClinGen CA386698752
- NCI-TCGA Cosmic COSV5740
- NCI-TCGA Cosmic COSV9996
- Uncertain significance
- not provided; Hypertrophic cardiomyopathy 10
- Missense
- Variant Prioritization Score for Impact Estimate 0.379
- AlphaMissense 0.20
- MetaLR 0.21
- MetaSVM -0.82
- PolyPhen-2 0.04
- SIFT 0.42
- MutPred 0.40
- ClinVar: Uncertain significance (not provided; 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)