S48R (p.Ser48Arg) variant of SHMT2 (P34897)
S48R (p.Ser48Arg) in SHMT2 (P34897) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data and structural context.
S48R (p.Ser48Arg) variant details
- p.Ser48Arg
- 1000Genomes rs183592454
- ExAC rs183592454
- TOPMed rs183592454
- gnomAD rs183592454
- Missense
- Variant Prioritization Score for Impact Estimate 0.109
- REVEL 0.08
- CADD 11.20
- PolyPhen-2 0.27
- SIFT 0.15
- Most common in the HGDP:TUJIA population (allele frequency 0.05)
- Structural context available