V44M (p.Val44Met) variant of PKLR (Pyruvate kinase PKLR)
V44M (p.Val44Met) in PKLR (Pyruvate kinase PKLR) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
V44M (p.Val44Met) variant details
- p.Val44Met
- gnomAD rs924210755
- Missense
- Variant Prioritization Score for Impact Estimate 0.424
- REVEL 0.34
- CADD 19.40
- PolyPhen-2 0.02
- SIFT 0.28
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available