N78Y (p.Asn78Tyr) variant of SHMT2 (P34897)
N78Y (p.Asn78Tyr) in SHMT2 (P34897) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data, published literature, and structural context.
N78Y (p.Asn78Tyr) variant details
- p.Asn78Tyr
- gnomAD 12-57231481-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.746
- REVEL 0.78
- CADD 33.00
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available