K2R (p.Lys2Arg) variant of DNAJC6 (Auxilin)
K2R (p.Lys2Arg) in DNAJC6 (Auxilin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
K2R (p.Lys2Arg) variant details
- p.Lys2Arg
- TOPMed rs1344102872
- gnomAD rs1344102872
- Missense
- Variant Prioritization Score for Impact Estimate 0.377
- CADD 18.30
- SIFT 1.00
- Most common in the Latino/Admixed American population (allele frequency 6.6e-05)
- Structural context available