S48G (p.Ser48Gly) variant of SHMT2 (P34897)
S48G (p.Ser48Gly) in SHMT2 (P34897) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
S48G (p.Ser48Gly) variant details
- p.Ser48Gly
- gnomAD 12-57230911-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.195
- REVEL 0.05
- CADD 22.70
- PolyPhen-2 0.07
- SIFT 0.13
- Most common in the REMAINING population (allele frequency 0.00013)
- Structural context available
- Literature evidence available