K483N (p.Lys483Asn) variant of ATP6V1B1 (P15313)
K483N (p.Lys483Asn) in ATP6V1B1 (P15313) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Renal tubular acidosis with progressive nerve deafness. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes published literature and structural context.
K483N (p.Lys483Asn) variant details
- p.Lys483Asn
- rs2104834809
- ClinGen CA347189547
- ClinVar RCV001843327
- Ensembl rs2104834809
- Likely pathogenic
- Renal tubular acidosis with progressive nerve deafness
- Missense
- Variant Prioritization Score for Impact Estimate 0.478
- AlphaMissense 0.71
- MetaLR 0.52
- MetaSVM -0.11
- PolyPhen-2 0.85
- SIFT 0.00
- EVE 0.23
- ClinVar: Likely pathogenic (Renal tubular acidosis with progressive nerve deafness)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Hereditary Distal Renal Tubular Acidosis. (PMID 31600044)