P12L (p.Pro12Leu) variant of SHMT2 (P34897)
P12L (p.Pro12Leu) in SHMT2 (P34897) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
P12L (p.Pro12Leu) variant details
- p.Pro12Leu
- gnomAD 12-57230804-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.441
- REVEL 0.28
- CADD 31.00
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available