D53V (p.Asp53Val) variant of SHMT2 (P34897)
D53V (p.Asp53Val) in SHMT2 (P34897) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data, published literature, and structural context.
D53V (p.Asp53Val) variant details
- p.Asp53Val
- gnomAD 12-57230927-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.72
- REVEL 0.76
- CADD 29.40
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available