Q33R (p.Gln33Arg) variant of SHMT2 (P34897)
Q33R (p.Gln33Arg) in SHMT2 (P34897) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data, published literature, and structural context.
Q33R (p.Gln33Arg) variant details
- p.Gln33Arg
- gnomAD 12-57230867-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.143
- REVEL 0.03
- CADD 17.80
- PolyPhen-2 0.00
- SIFT 0.61
- Most common in the REMAINING population (allele frequency 0.0003)
- Structural context available
- Literature evidence available