T35S (p.Thr35Ser) variant of MYH6 (Myosin-6)
T35S (p.Thr35Ser) in MYH6 (Myosin-6) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
T35S (p.Thr35Ser) variant details
- p.Thr35Ser
- rs876657875
- ClinGen CA10576949
- ClinVar RCV000222136
- Ensembl rs876657875
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.337
- REVEL 0.20
- CADD 17.20
- PolyPhen-2 0.14
- SIFT 0.17
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available