R66S (p.Arg66Ser) variant of SHMT2 (P34897)
R66S (p.Arg66Ser) in SHMT2 (P34897) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
R66S (p.Arg66Ser) variant details
- p.Arg66Ser
- rs1669703332
- gnomAD 12-57230965-AG-A
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.482
- CADD 33.00
- Most common in the 1KG:PUR population (allele frequency 0.0051)
- Structural context available
- Literature evidence available