S50W (p.Ser50Trp) variant of SHMT2 (P34897)
S50W (p.Ser50Trp) in SHMT2 (P34897) is a missense change. Clinical records from EBI and UniProt describe it as benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
S50W (p.Ser50Trp) variant details
- p.Ser50Trp
- 1000Genomes rs73338162
- ESP rs73338162
- ExAC rs73338162
- TOPMed rs73338162
- Benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.253
- REVEL 0.08
- CADD 22.20
- PolyPhen-2 0.73
- SIFT 0.15
- EBI: Benign
- UniProt: Benign
- Most common in the HGDP:BURUSHO population (allele frequency 0.021)
- Structural context available