C80R (p.Cys80Arg) variant of SHMT2 (P34897)
C80R (p.Cys80Arg) in SHMT2 (P34897) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data, published literature, and structural context.
C80R (p.Cys80Arg) variant details
- p.Cys80Arg
- gnomAD 12-57231487-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.582
- REVEL 0.52
- CADD 28.80
- PolyPhen-2 0.94
- SIFT 0.00
- Most common in the 1KG:PUR population (allele frequency 0.0051)
- Structural context available
- Literature evidence available