K60R (p.Lys60Arg) variant of PAX8 (Paired box protein Pax-8)
K60R (p.Lys60Arg) in PAX8 (Paired box protein Pax-8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
K60R (p.Lys60Arg) variant details
- p.Lys60Arg
- rs1021613853
- gnomAD 2-113227118-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.28
- CADD 6.98
- Most common in the Non-Finnish European population (allele frequency 9.2e-07)
- Structural context available
- Literature evidence available