N135H (p.Asn135His) variant of MYH6 (Myosin-6)
N135H (p.Asn135His) in MYH6 (Myosin-6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
N135H (p.Asn135His) variant details
- p.Asn135His
- gnomAD rs1347549938
- Missense
- Variant Prioritization Score for Impact Estimate 0.39
- REVEL 0.29
- CADD 23.70
- PolyPhen-2 0.70
- SIFT 0.04
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available