N60K (p.Asn60Lys) variant of MYL2 (P10916)
N60K (p.Asn60Lys) in MYL2 (P10916) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
N60K (p.Asn60Lys) variant details
- p.Asn60Lys
- cosmic curated COSV57406
- TOPMed rs1047009853
- gnomAD rs1047009853
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.436
- REVEL 0.63
- CADD 12.70
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available