R8R (p.Arg8Arg) variant of LMNA (Prelamin-A/C)
R8R (p.Arg8Arg) in LMNA (Prelamin-A/C) is a synonymous 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.
R8R (p.Arg8Arg) variant details
- p.Arg8Arg
- rs1337375663
- gnomAD 1-156114942-C-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.656
- CADD 16.40
- Most common in the 1KG:CDX population (allele frequency 0.017)
- Structural context available
- Literature evidence available