N40D (p.Asn40Asp) variant of SHMT2 (P34897)
N40D (p.Asn40Asp) in SHMT2 (P34897) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.06 / 1. The record also includes population frequency data, published literature, and structural context.
N40D (p.Asn40Asp) variant details
- p.Asn40Asp
- gnomAD 12-57230887-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.0617
- REVEL 0.01
- CADD 7.77
- PolyPhen-2 0.00
- SIFT 0.72
- Population evidence available
- Structural context available
- Literature evidence available