S52T (p.Ser52Thr) variant of SHMT2 (P34897)
S52T (p.Ser52Thr) in SHMT2 (P34897) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
S52T (p.Ser52Thr) variant details
- p.Ser52Thr
- gnomAD rs1369646344
- Missense
- Variant Prioritization Score for Impact Estimate 0.278
- REVEL 0.04
- CADD 19.00
- PolyPhen-2 0.00
- SIFT 0.63
- Most common in the 1KG:PUR population (allele frequency 0.0051)
- Structural context available