P99S (p.Pro99Ser) variant of MYH7 (Myosin-7)
P99S (p.Pro99Ser) in MYH7 (Myosin-7) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiomyopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes published literature and structural context.
P99S (p.Pro99Ser) variant details
- p.Pro99Ser
- rs1485804763
- ClinGen CA389053192
- ClinVar RCV004013321
- Uncertain significance
- Cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.876
- AlphaMissense 0.94
- MetaLR 0.93
- MetaSVM 1.09
- PolyPhen-2 0.62
- SIFT 0.00
- EVE 0.79
- ClinVar: Uncertain significance (Cardiomyopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this… (PMID 21810866)