T26S (p.Thr26Ser) variant of PYGM (P11217)
T26S (p.Thr26Ser) in PYGM (P11217) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
T26S (p.Thr26Ser) variant details
- p.Thr26Ser
- ExAC rs777515712
- gnomAD rs777515712
- Missense
- Variant Prioritization Score for Impact Estimate 0.274
- REVEL 0.18
- ESM-1b 0.00
- AlphaMissense 0.08
- CADD 16.40
- PolyPhen-2 0.00
- SIFT 0.62
- Most common in the South Asian population (allele frequency 0.00012)
- Structural context available