Y3C (p.Tyr3Cys) variant of SHMT2 (P34897)
Y3C (p.Tyr3Cys) in SHMT2 (P34897) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
Y3C (p.Tyr3Cys) variant details
- p.Tyr3Cys
- TOPMed rs2037237805
- Missense
- Variant Prioritization Score for Impact Estimate 0.27
- REVEL 0.17
- CADD 14.50
- PolyPhen-2 0.08
- SIFT 0.09
- Most common in the South Asian population (allele frequency 0.00041)
- Structural context available