K66R (p.Lys66Arg) variant of ARAF (P10398)
K66R (p.Lys66Arg) in ARAF (P10398) 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.
K66R (p.Lys66Arg) variant details
- p.Lys66Arg
- gnomAD X-47563326-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.278
- REVEL 0.23
- CADD 21.50
- PolyPhen-2 0.02
- SIFT 0.38
- Most common in the Non-Finnish European population (allele frequency 2.4e-06)
- Structural context available
- Literature evidence available