C16Y (p.Cys16Tyr) variant of SHMT2 (P34897)
C16Y (p.Cys16Tyr) in SHMT2 (P34897) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
C16Y (p.Cys16Tyr) variant details
- p.Cys16Tyr
- gnomAD rs1216006197
- Missense
- Variant Prioritization Score for Impact Estimate 0.239
- REVEL 0.18
- CADD 22.30
- PolyPhen-2 0.01
- SIFT 0.29
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available