R69P (p.Arg69Pro) variant of SHMT2 (P34897)
R69P (p.Arg69Pro) in SHMT2 (P34897) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data and structural context.
R69P (p.Arg69Pro) variant details
- p.Arg69Pro
- ESP rs376369904
- ExAC rs376369904
- TOPMed rs376369904
- gnomAD rs376369904
- Missense
- Variant Prioritization Score for Impact Estimate 0.524
- REVEL 0.32
- CADD 29.10
- PolyPhen-2 0.90
- SIFT 0.04
- Most common in the HGDP:BANTUKENYA population (allele frequency 0.05)
- Structural context available