N134K (p.Asn134Lys) variant of PYGM (P11217)
N134K (p.Asn134Lys) in PYGM (P11217) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data and structural context.
N134K (p.Asn134Lys) variant details
- p.Asn134Lys
- ESP rs372262267
- ExAC rs372262267
- TOPMed rs372262267
- gnomAD rs372262267
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.593
- REVEL 0.81
- ESM-1b 1.00
- AlphaMissense 1.00
- CADD 12.20
- PolyPhen-2 1.00
- SIFT 0.00
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 2e-05)
- Structural context available