R21T (p.Arg21Thr) variant of SHMT2 (P34897)
R21T (p.Arg21Thr) in SHMT2 (P34897) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data and structural context.
R21T (p.Arg21Thr) variant details
- p.Arg21Thr
- ExAC rs777502493
- gnomAD rs777502493
- Missense
- Variant Prioritization Score for Impact Estimate 0.187
- REVEL 0.13
- CADD 16.60
- PolyPhen-2 0.00
- SIFT 0.36
- Most common in the HGDP:DAUR population (allele frequency 0.33)
- Structural context available