C68R (p.Cys68Arg) variant of SHMT2 (P34897)
C68R (p.Cys68Arg) in SHMT2 (P34897) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
C68R (p.Cys68Arg) variant details
- p.Cys68Arg
- 1000Genomes rs568519647
- ExAC rs568519647
- gnomAD rs568519647
- Missense
- Variant Prioritization Score for Impact Estimate 0.347
- REVEL 0.27
- CADD 22.80
- PolyPhen-2 0.00
- SIFT 0.39
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.0019)
- Structural context available