P7P (p.Pro7Pro) variant of KCNQ1 (Potassium voltage-gated channel subfamily KQT member 1)
P7P (p.Pro7Pro) in KCNQ1 (Potassium voltage-gated channel subfamily KQT member 1) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
P7P (p.Pro7Pro) variant details
- p.Pro7Pro
- rs773966802
- gnomAD 11-2445119-G-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.253
- CADD 13.00
- Most common in the 1KG:FIN population (allele frequency 0.0051)
- Structural context available
- Literature evidence available