T44R (p.Thr44Arg) variant of SHMT2 (P34897)
T44R (p.Thr44Arg) in SHMT2 (P34897) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
T44R (p.Thr44Arg) variant details
- p.Thr44Arg
- TOPMed rs1292550437
- gnomAD rs1292550437
- Missense
- Variant Prioritization Score for Impact Estimate 0.36
- REVEL 0.15
- CADD 23.20
- PolyPhen-2 0.48
- SIFT 0.11
- Most common in the South Asian population (allele frequency 0.00041)
- Structural context available