R109K (p.Arg109Lys) variant of RRAD (GTP-binding protein RAD)
R109K (p.Arg109Lys) in RRAD (GTP-binding protein RAD) 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, published literature, and structural context.
R109K (p.Arg109Lys) variant details
- p.Arg109Lys
- rs2145483339
- gnomAD 16-66921813-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.355
- ESM-1b 0.64
- AlphaMissense 0.21
- CADD 6.61
- Most common in the HGDP:SURUI population (allele frequency 0.29)
- Structural context available
- Literature evidence available