D85N (p.Asp85Asn) variant of MYH6 (Myosin-6)
D85N (p.Asp85Asn) in MYH6 (Myosin-6) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype; not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and structural context.
D85N (p.Asp85Asn) variant details
- p.Asp85Asn
- rs397516758
- ClinGen CA134280
- ClinVar RCV000037457
- ClinVar RCV003352754
- Uncertain significance
- Cardiovascular phenotype; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.483
- REVEL 0.37
- CADD 24.20
- PolyPhen-2 0.09
- SIFT 0.02
- ClinVar: Uncertain significance (Cardiovascular phenotype; not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available