E55V (p.Glu55Val) variant of SHMT2 (P34897)
E55V (p.Glu55Val) in SHMT2 (P34897) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data and structural context.
E55V (p.Glu55Val) variant details
- p.Glu55Val
- TOPMed rs1326517219
- Missense
- Variant Prioritization Score for Impact Estimate 0.526
- REVEL 0.46
- CADD 25.30
- PolyPhen-2 0.30
- SIFT 0.02
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available