R6C (p.Arg6Cys) variant of ADD1 (Alpha-adducin)
R6C (p.Arg6Cys) in ADD1 (Alpha-adducin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
R6C (p.Arg6Cys) variant details
- p.Arg6Cys
- rs2295497
- cosmic curated COSV53269
- UniProt VAR 022108
- 1000Genomes rs2295497
- Missense
- Variant Prioritization Score for Impact Estimate 0.364
- REVEL 0.08
- ESM-1b 1.00
- AlphaMissense 0.11
- MetaLR 0.06
- MetaSVM -1.11
- CADD 26.60
- Most common in the HGDP:SHE population (allele frequency 0.11)
- Structural context available