R69C (p.Arg69Cys) variant of SHMT2 (P34897)
R69C (p.Arg69Cys) 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.
R69C (p.Arg69Cys) variant details
- p.Arg69Cys
- ESP rs373440935
- ExAC rs373440935
- TOPMed rs373440935
- gnomAD rs373440935
- Missense
- Variant Prioritization Score for Impact Estimate 0.36
- REVEL 0.20
- CADD 23.90
- PolyPhen-2 0.09
- SIFT 0.05
- Most common in the HGDP:TUJIA population (allele frequency 0.05)
- Structural context available