G70V (p.Gly70Val) variant of SHMT2 (P34897)
G70V (p.Gly70Val) in SHMT2 (P34897) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data and structural context.
G70V (p.Gly70Val) variant details
- p.Gly70Val
- TOPMed rs1427117085
- gnomAD rs1427117085
- Missense
- Variant Prioritization Score for Impact Estimate 0.661
- REVEL 0.55
- CADD 29.40
- PolyPhen-2 1.00
- SIFT 0.01
- Most common in the South Asian population (allele frequency 0.00041)
- Structural context available