A47T (p.Ala47Thr) variant of PYGM (P11217)
A47T (p.Ala47Thr) in PYGM (P11217) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data and structural context.
A47T (p.Ala47Thr) variant details
- p.Ala47Thr
- gnomAD rs2058421813
- Missense
- Variant Prioritization Score for Impact Estimate 0.808
- REVEL 0.79
- ESM-1b 1.00
- AlphaMissense 0.78
- CADD 26.10
- PolyPhen-2 0.75
- SIFT 0.02
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available