P12P (p.Pro12Pro) variant of SHMT2 (P34897)
P12P (p.Pro12Pro) in SHMT2 (P34897) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
P12P (p.Pro12Pro) variant details
- p.Pro12Pro
- gnomAD 12-57230805-T-G
- Splice Region
- Variant Prioritization Score for Impact Estimate 0.324
- CADD 15.30
- Population evidence available
- Structural context available
- Literature evidence available