T63S (p.Thr63Ser) variant of MYH6 (Myosin-6)
T63S (p.Thr63Ser) in MYH6 (Myosin-6) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data and structural context.
T63S (p.Thr63Ser) variant details
- p.Thr63Ser
- gnomAD rs1454138216
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.571
- REVEL 0.55
- CADD 23.10
- PolyPhen-2 0.37
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available