R69G (p.Arg69Gly) variant of SHMT2 (P34897)
R69G (p.Arg69Gly) in SHMT2 (P34897) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
R69G (p.Arg69Gly) variant details
- p.Arg69Gly
- gnomAD 12-57230974-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.372
- REVEL 0.23
- CADD 23.10
- PolyPhen-2 0.12
- SIFT 0.08
- Most common in the Non-Finnish European population (allele frequency 0.00028)
- Structural context available
- Literature evidence available