T48A (p.Thr48Ala) variant of PYGM (P11217)
T48A (p.Thr48Ala) in PYGM (P11217) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data and structural context.
T48A (p.Thr48Ala) variant details
- p.Thr48Ala
- Ensembl rs1565538897
- Missense
- Variant Prioritization Score for Impact Estimate 0.598
- REVEL 0.55
- ESM-1b 1.00
- AlphaMissense 0.29
- CADD 23.70
- PolyPhen-2 0.06
- SIFT 0.01
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available