V20L (p.Val20Leu) variant of SHMT2 (P34897)
V20L (p.Val20Leu) in SHMT2 (P34897) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
V20L (p.Val20Leu) variant details
- p.Val20Leu
- gnomAD 12-57230827-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.296
- REVEL 0.07
- CADD 18.10
- PolyPhen-2 0.00
- SIFT 0.44
- Population evidence available
- Structural context available
- Literature evidence available