M92I (p.Met92Ile) variant of PYGM (P11217)
M92I (p.Met92Ile) in PYGM (P11217) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
M92I (p.Met92Ile) variant details
- p.Met92Ile
- Ensembl rs2135840908
- Missense
- Variant Prioritization Score for Impact Estimate 0.341
- REVEL 0.25
- ESM-1b 1.00
- AlphaMissense 0.44
- CADD 14.80
- PolyPhen-2 0.04
- SIFT 0.36
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available