P82S (p.Pro82Ser) variant of MYH6 (Myosin-6)
P82S (p.Pro82Ser) in MYH6 (Myosin-6) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Sick sinus syndrome 3, susceptibility to; Hypertrophic cardiomyopathy 1; Dilated. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data, published literature, and structural context.
P82S (p.Pro82Ser) variant details
- p.Pro82Ser
- rs754260713
- ClinGen CA7116219
- ClinVar RCV001879035
- ClinVar RCV002458690
- Uncertain significance
- Sick sinus syndrome 3, susceptibility to; Hypertrophic cardiomyopathy 1; Dilated
- Missense
- Variant Prioritization Score for Impact Estimate 0.629
- REVEL 0.53
- CADD 26.30
- PolyPhen-2 0.52
- SIFT 0.01
- ClinVar: Uncertain significance (Sick sinus syndrome 3, susceptibility to; Hypertrophic cardiomyo)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available
- Cited in: Dilated Cardiomyopathy Overview. (PMID 20301486)
- Cited in: Nonsyndromic Hypertrophic Cardiomyopathy Overview. (PMID 20301725)