R69S (p.Arg69Ser) variant of SHMT2 (P34897)
R69S (p.Arg69Ser) 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.
R69S (p.Arg69Ser) variant details
- p.Arg69Ser
- ESP rs373440935
- ExAC rs373440935
- TOPMed rs373440935
- gnomAD rs373440935
- Missense
- Variant Prioritization Score for Impact Estimate 0.365
- REVEL 0.21
- CADD 23.10
- PolyPhen-2 0.19
- SIFT 0.26
- Most common in the HGDP:BANTUKENYA population (allele frequency 0.05)
- Structural context available