K70R (p.Lys70Arg) variant of CD80 (P33681)
K70R (p.Lys70Arg) in CD80 (P33681) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
K70R (p.Lys70Arg) variant details
- p.Lys70Arg
- rs775739462
- gnomAD 3-119544759-T-TTC
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.24
- CADD 22.50
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available