S50L (p.Ser50Leu) variant of SHMT2 (P34897)
S50L (p.Ser50Leu) in SHMT2 (P34897) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data and structural context.
S50L (p.Ser50Leu) variant details
- p.Ser50Leu
- rs73338162
- ClinGen CA6646270
- ClinVar RCV001686493
- 1000Genomes rs73338162
- Benign
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.198
- REVEL 0.03
- CADD 16.50
- PolyPhen-2 0.05
- SIFT 0.18
- ClinVar: Benign (not provided)
- EBI: Benign
- UniProt: Benign
- Most common in the HGDP:MBUTI population (allele frequency 0.33)
- Structural context available