Q33Q (p.Gln33Gln) variant of SHMT2 (P34897)
Q33Q (p.Gln33Gln) in SHMT2 (P34897) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
Q33Q (p.Gln33Gln) variant details
- p.Gln33Gln
- rs2136784404
- gnomAD 12-57230868-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.375
- CADD 13.30
- Most common in the HGDP:MBUTI population (allele frequency 0.33)
- Structural context available
- Literature evidence available