R21S (p.Arg21Ser) variant of SHMT2 (P34897)
R21S (p.Arg21Ser) in SHMT2 (P34897) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data and structural context.
R21S (p.Arg21Ser) variant details
- p.Arg21Ser
- TOPMed rs1453830388
- gnomAD rs1453830388
- Missense
- Variant Prioritization Score for Impact Estimate 0.172
- REVEL 0.06
- CADD 17.40
- PolyPhen-2 0.00
- SIFT 0.47
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available