P2P (p.Pro2Pro) variant of KCNQ5 (Q9NR82)
P2P (p.Pro2Pro) in KCNQ5 (Q9NR82) is a synonymous 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.
P2P (p.Pro2Pro) variant details
- p.Pro2Pro
- gnomAD 6-72622195-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.611
- CADD 16.10
- Most common in the Non-Finnish European population (allele frequency 1.1e-06)
- Structural context available
- Literature evidence available