K3R (p.Lys3Arg) variant of NBN (Nibrin)
K3R (p.Lys3Arg) in NBN (Nibrin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data and structural context.
K3R (p.Lys3Arg) variant details
- p.Lys3Arg
- ExAC rs771376603
- Missense
- Variant Prioritization Score for Impact Estimate 0.156
- REVEL 0.06
- CADD 18.80
- PolyPhen-2 0.03
- SIFT 0.14
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available