K12R (p.Lys12Arg) variant of PYGM (P11217)
K12R (p.Lys12Arg) in PYGM (P11217) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and structural context.
K12R (p.Lys12Arg) variant details
- p.Lys12Arg
- ExAC rs772411515
- gnomAD rs772411515
- Missense
- Variant Prioritization Score for Impact Estimate 0.483
- REVEL 0.51
- ESM-1b 0.00
- AlphaMissense 0.09
- CADD 22.70
- PolyPhen-2 0.02
- SIFT 0.18
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available