P24R (p.Pro24Arg) variant of KCNJ11 (Q14654)
P24R (p.Pro24Arg) in KCNJ11 (Q14654) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data, published literature, and structural context.
P24R (p.Pro24Arg) variant details
- p.Pro24Arg
- gnomAD 11-17388021-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.607
- REVEL 0.49
- CADD 25.70
- PolyPhen-2 0.56
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available