W8C (p.Trp8Cys) variant of SHMT2 (P34897)
W8C (p.Trp8Cys) in SHMT2 (P34897) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
W8C (p.Trp8Cys) variant details
- p.Trp8Cys
- gnomAD rs1288927296
- Missense
- Variant Prioritization Score for Impact Estimate 0.288
- REVEL 0.14
- CADD 20.70
- PolyPhen-2 0.08
- SIFT 0.18
- Most common in the 1KG:ACB population (allele frequency 0.0054)
- Structural context available