K60R (p.Lys60Arg) variant of PADI4 (Q9UM07)
K60R (p.Lys60Arg) in PADI4 (Q9UM07) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data and structural context.
K60R (p.Lys60Arg) variant details
- p.Lys60Arg
- gnomAD rs1483406409
- Missense
- Variant Prioritization Score for Impact Estimate 0.185
- REVEL 0.07
- CADD 22.60
- PolyPhen-2 0.77
- SIFT 0.38
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available