A75G (p.Ala75Gly) variant of SHMT2 (P34897)
A75G (p.Ala75Gly) in SHMT2 (P34897) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data, published literature, and structural context.
A75G (p.Ala75Gly) variant details
- p.Ala75Gly
- gnomAD 12-57230993-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.627
- REVEL 0.50
- CADD 28.10
- PolyPhen-2 1.00
- SIFT 0.01
- Most common in the HGDP:DAUR population (allele frequency 0.33)
- Structural context available
- Literature evidence available