A22T (p.Ala22Thr) variant of MYBPC3 (Myosin-binding protein C, cardiac-type)
A22T (p.Ala22Thr) in MYBPC3 (Myosin-binding protein C, cardiac-type) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data and structural context.
A22T (p.Ala22Thr) variant details
- p.Ala22Thr
- Ensembl rs2095900988
- Missense
- Variant Prioritization Score for Impact Estimate 0.116
- REVEL 0.03
- ESM-1b 0.00
- AlphaMissense 0.11
- CADD 9.67
- PolyPhen-2 0.01
- SIFT 0.53
- Most common in the HGDP:BERGAMOITALIAN population (allele frequency 0.045)
- Structural context available