R41G (p.Arg41Gly) variant of SHMT2 (P34897)
R41G (p.Arg41Gly) in SHMT2 (P34897) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
R41G (p.Arg41Gly) variant details
- p.Arg41Gly
- rs761732423
- gnomAD 12-57230889-CAG-C
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.326
- CADD 22.30
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available