M95R (p.Met95Arg) variant of GYS2 (P54840)
M95R (p.Met95Arg) in GYS2 (P54840) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data and structural context.
M95R (p.Met95Arg) variant details
- p.Met95Arg
- Ensembl rs1944494905
- Missense
- Variant Prioritization Score for Impact Estimate 0.75
- REVEL 0.77
- ESM-1b 1.00
- AlphaMissense 0.98
- CADD 26.50
- PolyPhen-2 0.63
- SIFT 0.01
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available