Q27R (p.Gln27Arg) variant of SHMT2 (P34897)
Q27R (p.Gln27Arg) in SHMT2 (P34897) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
Q27R (p.Gln27Arg) variant details
- p.Gln27Arg
- gnomAD 12-57230849-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.298
- REVEL 0.15
- CADD 22.40
- PolyPhen-2 0.00
- SIFT 0.40
- Most common in the HGDP:DAUR population (allele frequency 0.33)
- Structural context available
- Literature evidence available