A14V (p.Ala14Val) variant of KCNQ5 (Q9NR82)
A14V (p.Ala14Val) in KCNQ5 (Q9NR82) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data and structural context.
A14V (p.Ala14Val) variant details
- p.Ala14Val
- rs2098915518
- ClinGen CA364824029
- ClinVar RCV001999678
- ClinVar RCV005406267
- Uncertain significance
- not specified; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.51
- REVEL 0.41
- CADD 23.60
- PolyPhen-2 0.02
- SIFT 0.01
- ClinVar: Uncertain significance (not specified; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 6.5e-06)
- Structural context available