P9P (p.Pro9Pro) variant of ATP6V1B1 (P15313)

Name: ATP6V1B1 P9P (p.Pro9Pro) variant | CATVariant
Creator: Center for Precision Medicine and Data Sciences
Published: 2026-08-21
License: https://catvariant.com/terms-of-use

P9P (p.Pro9Pro) in ATP6V1B1 (P15313) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data, published literature, and structural context.

P9P (p.Pro9Pro) variant details

p.Pro9Pro
rs17853498
gnomAD 2-70935981-T-C
Synonymous
Variant Prioritization Score for Impact Estimate 0.108
CADD 3.90
Most common in the HGDP:MIAO population (allele frequency 0.5)
Structural context available
Cited in: A single nucleotide polymorphism in kidney anion exchanger 1 gene is associated with incomplete type 1 renal tubular… (PMID 27767102)
Cited in: A systematic approach to assessing the clinical significance of genetic variants. (PMID 24033266)