R82Q (p.Arg82Gln) variant of SHMT2 (P34897)
R82Q (p.Arg82Gln) in SHMT2 (P34897) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
R82Q (p.Arg82Gln) variant details
- p.Arg82Gln
- TOPMed rs11557163
- gnomAD rs11557163
- Missense
- Variant Prioritization Score for Impact Estimate 0.442
- REVEL 0.22
- CADD 24.60
- PolyPhen-2 0.18
- SIFT 0.24
- Most common in the HGDP:LAHU population (allele frequency 0.1)
- Structural context available