S76L (p.Ser76Leu) variant of SHMT2 (P34897)
S76L (p.Ser76Leu) in SHMT2 (P34897) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data, published literature, and structural context.
S76L (p.Ser76Leu) variant details
- p.Ser76Leu
- gnomAD 12-57230996-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.693
- REVEL 0.64
- CADD 25.70
- PolyPhen-2 0.43
- SIFT 0.00
- Most common in the HGDP:MBUTI population (allele frequency 0.33)
- Structural context available
- Literature evidence available