A22P (p.Ala22Pro) variant of KCNQ5 (Q9NR82)
A22P (p.Ala22Pro) in KCNQ5 (Q9NR82) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
A22P (p.Ala22Pro) variant details
- p.Ala22Pro
- gnomAD 6-72622253-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.494
- REVEL 0.46
- CADD 21.00
- PolyPhen-2 0.03
- SIFT 0.48
- Most common in the REMAINING population (allele frequency 2.2e-05)
- Structural context available
- Literature evidence available