M92V (p.Met92Val) variant of PYGM (P11217)
M92V (p.Met92Val) in PYGM (P11217) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data and structural context.
M92V (p.Met92Val) variant details
- p.Met92Val
- gnomAD rs1435533547
- Missense
- Variant Prioritization Score for Impact Estimate 0.61
- REVEL 0.59
- ESM-1b 1.00
- AlphaMissense 0.11
- CADD 21.70
- PolyPhen-2 0.05
- SIFT 0.10
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available