R69H (p.Arg69His) variant of SHMT2 (P34897)
R69H (p.Arg69His) in SHMT2 (P34897) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
R69H (p.Arg69His) variant details
- p.Arg69His
- ESP rs376369904
- ExAC rs376369904
- TOPMed rs376369904
- gnomAD rs376369904
- Missense
- Variant Prioritization Score for Impact Estimate 0.373
- REVEL 0.11
- CADD 23.10
- PolyPhen-2 0.09
- SIFT 0.47
- Most common in the 1KG:PUR population (allele frequency 0.0051)
- Structural context available