N135S (p.Asn135Ser) variant of MYH6 (Myosin-6)
N135S (p.Asn135Ser) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
N135S (p.Asn135Ser) variant details
- p.Asn135Ser
- rs763885051
- ClinGen CA7116176
- ClinVar RCV003177688
- ExAC rs763885051
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.304
- REVEL 0.11
- CADD 20.60
- PolyPhen-2 0.05
- SIFT 0.14
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00039)
- Structural context available