R62K (p.Arg62Lys) variant of SHMT2 (P34897)
R62K (p.Arg62Lys) in SHMT2 (P34897) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data and structural context.
R62K (p.Arg62Lys) variant details
- p.Arg62Lys
- ExAC rs778762177
- TOPMed rs778762177
- Missense
- Variant Prioritization Score for Impact Estimate 0.137
- REVEL 0.03
- CADD 15.70
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the Ashkenazi Jewish population (allele frequency 0.00086)
- Structural context available