C91Y (p.Cys91Tyr) variant of SHMT2 (P34897)
C91Y (p.Cys91Tyr) in SHMT2 (P34897) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data and structural context.
C91Y (p.Cys91Tyr) variant details
- p.Cys91Tyr
- ExAC rs764829768
- gnomAD rs764829768
- Missense
- Variant Prioritization Score for Impact Estimate 0.726
- REVEL 0.65
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Middle Eastern population (allele frequency 0.001)
- Structural context available