D22V (p.Asp22Val) variant of PKLR (Pyruvate kinase PKLR)
D22V (p.Asp22Val) in PKLR (Pyruvate kinase PKLR) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data and structural context.
D22V (p.Asp22Val) variant details
- p.Asp22Val
- Ensembl rs1647979024
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.564
- REVEL 0.67
- CADD 24.50
- PolyPhen-2 0.83
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available