N40K (p.Asn40Lys) variant of SHMT2 (P34897)
N40K (p.Asn40Lys) in SHMT2 (P34897) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data, published literature, and structural context.
N40K (p.Asn40Lys) variant details
- p.Asn40Lys
- gnomAD 12-57230889-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.095
- REVEL 0.01
- CADD 7.14
- PolyPhen-2 0.01
- SIFT 1.00
- Population evidence available
- Structural context available
- Literature evidence available