Q27P (p.Gln27Pro) variant of SHMT2 (P34897)
Q27P (p.Gln27Pro) in SHMT2 (P34897) is a missense 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.
Q27P (p.Gln27Pro) variant details
- p.Gln27Pro
- gnomAD 12-57230849-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.342
- REVEL 0.22
- CADD 22.90
- PolyPhen-2 0.18
- SIFT 0.24
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available