N135K (p.Asn135Lys) variant of MYH6 (Myosin-6)
N135K (p.Asn135Lys) in MYH6 (Myosin-6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data and structural context.
N135K (p.Asn135Lys) variant details
- p.Asn135Lys
- TOPMed rs1350104595
- Missense
- Variant Prioritization Score for Impact Estimate 0.126
- REVEL 0.14
- CADD 2.71
- Most common in the HGDP:MANDENKA population (allele frequency 0.025)
- Structural context available