A13T (p.Ala13Thr) variant of KCNQ5 (Q9NR82)
A13T (p.Ala13Thr) in KCNQ5 (Q9NR82) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not specified; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
A13T (p.Ala13Thr) variant details
- p.Ala13Thr
- rs933885701
- ClinGen CA141452102
- ClinVar RCV002601170
- ClinVar RCV004782946
- Conflicting interpretations
- not specified; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.46
- REVEL 0.40
- CADD 20.90
- PolyPhen-2 0.00
- SIFT 0.30
- ClinVar: Conflicting classifications of pathogenicity (not specified; not provided)
- EBI: Benign
- UniProt: Benign
- Most common in the REMAINING population (allele frequency 6.9e-05)
- Structural context available