C10R (p.Cys10Arg) variant of TTR (Transthyretin)
C10R (p.Cys10Arg) in TTR (Transthyretin) 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, published literature, and structural context.
C10R (p.Cys10Arg) variant details
- p.Cys10Arg
- gnomAD 18-31591930-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.665
- REVEL 0.71
- MetaLR 0.84
- MetaSVM 0.69
- CADD 23.70
- PolyPhen-2 0.46
- SIFT 0.20
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available