K30R (p.Lys30Arg) variant of PYGM (P11217)
K30R (p.Lys30Arg) in PYGM (P11217) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes structural context.
K30R (p.Lys30Arg) variant details
- p.Lys30Arg
- ExAC rs764779249
- gnomAD rs764779249
- Missense
- Variant Prioritization Score for Impact Estimate 0.58
- ESM-1b 1.00
- AlphaMissense 0.08
- Structural context available