Y3T (p.Tyr3Thr) variant of SHMT2 (P34897)
Y3T (p.Tyr3Thr) in SHMT2 (P34897) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data, published literature, and structural context.
Y3T (p.Tyr3Thr) variant details
- p.Tyr3Thr
- gnomAD 12-57229784-GT-G
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.189
- CADD 15.30
- Most common in the HGDP:TUSCAN population (allele frequency 0.062)
- Structural context available
- Literature evidence available