H124N (p.His124Asn) variant of PKLR (Pyruvate kinase PKLR)
H124N (p.His124Asn) in PKLR (Pyruvate kinase PKLR) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data and structural context.
H124N (p.His124Asn) variant details
- p.His124Asn
- NCI-TCGA Cosmic COSV6136
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.723
- REVEL 0.87
- AlphaMissense 0.70
- MetaLR 0.01
- MetaSVM -0.95
- CADD 26.80
- PolyPhen-2 0.38
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available