G37V (p.Gly37Val) variant of PKLR (Pyruvate kinase PKLR)
G37V (p.Gly37Val) in PKLR (Pyruvate kinase PKLR) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data and structural context.
G37V (p.Gly37Val) variant details
- p.Gly37Val
- ExAC rs118204087
- gnomAD rs118204087
- Missense
- Variant Prioritization Score for Impact Estimate 0.646
- REVEL 0.65
- CADD 22.50
- PolyPhen-2 0.46
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- Structural context available