M1T (p.Met1Thr) variant of ATP6V1B1 (P15313)
M1T (p.Met1Thr) in ATP6V1B1 (P15313) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign in the context of not specified; not provided; Renal tubular acidosis with progressive nerve deafn. The record also includes variant effect predictions, population frequency data, published literature, and structural context.
M1T (p.Met1Thr) variant details
- p.Met1Thr
- rs11681642
- ClinGen CA133784
- ClinVar RCV000037207
- ClinVar RCV000345623
- Benign
- not specified; not provided; Renal tubular acidosis with progressive nerve deafn
- Missense
- MetaLR 0.00
- MetaSVM -1.08
- PolyPhen-2 0.83
- SIFT 0.00
- ClinVar: Benign (not specified; not provided; Renal tubular acidosis with progres)
- EBI: Benign
- UniProt: Benign
- Population evidence available
- Structural context available
- Cited in: Hereditary Distal Renal Tubular Acidosis. (PMID 31600044)