P39S (p.Pro39Ser) variant of KCNJ3 (P48549)
P39S (p.Pro39Ser) in KCNJ3 (P48549) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
P39S (p.Pro39Ser) variant details
- p.Pro39Ser
- cosmic curated COSV10588
- gnomAD rs1397180409
- Missense
- Variant Prioritization Score for Impact Estimate 0.452
- REVEL 0.27
- CADD 17.90
- Most common in the East Asian population (allele frequency 0.00015)
- Structural context available