H127R (p.His127Arg) variant of PKLR (Pyruvate kinase PKLR)
H127R (p.His127Arg) in PKLR (Pyruvate kinase PKLR) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data and structural context.
H127R (p.His127Arg) variant details
- p.His127Arg
- rs1572057410
- Ensembl rs1572057410
- ClinGen CA342755920
- ClinVar RCV001002382
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.771
- REVEL 0.95
- CADD 25.10
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available