S6T (p.Ser6Thr) variant of PYGM (P11217)
S6T (p.Ser6Thr) in PYGM (P11217) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
S6T (p.Ser6Thr) variant details
- p.Ser6Thr
- cosmic curated COSV51219
- ExAC rs764749317
- TOPMed rs764749317
- gnomAD rs764749317
- Missense
- Variant Prioritization Score for Impact Estimate 0.312
- REVEL 0.21
- ESM-1b 0.00
- AlphaMissense 0.06
- CADD 12.70
- PolyPhen-2 0.00
- SIFT 0.94
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available