S50P (p.Ser50Pro) variant of SHMT2 (P34897)
S50P (p.Ser50Pro) in SHMT2 (P34897) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
S50P (p.Ser50Pro) variant details
- p.Ser50Pro
- TOPMed rs1270799088
- gnomAD rs1270799088
- Missense
- Variant Prioritization Score for Impact Estimate 0.25
- REVEL 0.11
- CADD 20.50
- Most common in the HGDP:DAUR population (allele frequency 0.33)
- Structural context available