T30I (p.Thr30Ile) variant of ATP6V1B1 (P15313)
T30I (p.Thr30Ile) in ATP6V1B1 (P15313) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign/likely benign in the context of not specified; not provided; Renal tubular acidosis with progressive nerve deafn. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
T30I (p.Thr30Ile) variant details
- p.Thr30Ile
- rs17720303
- ClinGen CA133790
- cosmic curated COSV52265
- ClinVar RCV000037210
- Benign/Likely benign
- not specified; not provided; Renal tubular acidosis with progressive nerve deafn
- Missense
- Variant Prioritization Score for Impact Estimate 0.372
- REVEL 0.20
- CADD 19.80
- PolyPhen-2 0.00
- SIFT 0.08
- ClinVar: Benign/Likely benign (not specified; not provided; Renal tubular acidosis with progres)
- EBI: Benign (in dbSNP:rs17720303)
- UniProt: Benign (in dbSNP:rs17720303)
- Most common in the HGDP:DAUR population (allele frequency 0.56)
- Structural context available
- Cited in: Novel ATP6V1B1 and ATP6V0A4 mutations in autosomal recessive distal renal tubular acidosis with new evidence for… (PMID 12414817)
- Cited in: Hereditary Distal Renal Tubular Acidosis. (PMID 31600044)