D41N (p.Asp41Asn) variant of MYH6 (Myosin-6)
D41N (p.Asp41Asn) in MYH6 (Myosin-6) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified; Cardiovascular phenotype; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data, published literature, and structural context.
D41N (p.Asp41Asn) variant details
- p.Asp41Asn
- rs201161721
- ClinGen CA237376
- cosmic curated COSV10466
- ClinVar RCV000172037
- Uncertain significance
- not specified; Cardiovascular phenotype; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.641
- REVEL 0.55
- CADD 24.20
- PolyPhen-2 0.71
- SIFT 0.05
- ClinVar: Uncertain significance (not specified; Cardiovascular phenotype; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 0.00013)
- Structural context available
- Cited in: Clinical utility gene card for: hypertrophic cardiomyopathy (type 1-14). (PMID 21267010)