Q35E (p.Gln35Glu) variant of SHMT2 (P34897)
Q35E (p.Gln35Glu) in SHMT2 (P34897) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
Q35E (p.Gln35Glu) variant details
- p.Gln35Glu
- ExAC rs747029667
- gnomAD rs747029667
- Missense
- Variant Prioritization Score for Impact Estimate 0.267
- REVEL 0.04
- CADD 14.60
- PolyPhen-2 0.01
- SIFT 1.00
- Most common in the HGDP:TUSCAN population (allele frequency 0.062)
- Structural context available