M100I (p.Met100Ile) variant of PYGM (P11217)
M100I (p.Met100Ile) in PYGM (P11217) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data and structural context.
M100I (p.Met100Ile) variant details
- p.Met100Ile
- ExAC rs780840197
- gnomAD rs780840197
- Missense
- Variant Prioritization Score for Impact Estimate 0.691
- REVEL 0.79
- ESM-1b 0.00
- AlphaMissense 0.84
- CADD 22.70
- PolyPhen-2 0.32
- SIFT 0.19
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available