T65S (p.Thr65Ser) variant of MYBPC3 (Myosin-binding protein C, cardiac-type)
T65S (p.Thr65Ser) in MYBPC3 (Myosin-binding protein C, cardiac-type) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
T65S (p.Thr65Ser) variant details
- p.Thr65Ser
- gnomAD rs1182438503
- Missense
- Variant Prioritization Score for Impact Estimate 0.24
- REVEL 0.18
- ESM-1b 0.00
- AlphaMissense 0.25
- CADD 14.70
- PolyPhen-2 0.05
- SIFT 1.00
- Most common in the HGDP:PATHAN population (allele frequency 0.14)
- Structural context available