W8G (p.Trp8Gly) variant of SHMT2 (P34897)
W8G (p.Trp8Gly) in SHMT2 (P34897) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
W8G (p.Trp8Gly) variant details
- p.Trp8Gly
- rs764141971
- gnomAD 12-57229796-GT-G
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.343
- CADD 14.10
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available