S50S (p.Ser50Ser) variant of SHMT2 (P34897)
S50S (p.Ser50Ser) in SHMT2 (P34897) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data, published literature, and structural context.
S50S (p.Ser50Ser) variant details
- p.Ser50Ser
- rs1013269533
- gnomAD 12-57230919-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.0901
- CADD 1.33
- Most common in the HGDP:BEDOUIN population (allele frequency 0.2)
- Structural context available
- Literature evidence available