M26T (p.Met26Thr) variant of ATP6V1B1 (P15313)
M26T (p.Met26Thr) in ATP6V1B1 (P15313) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
M26T (p.Met26Thr) variant details
- p.Met26Thr
- rs527738649
- ClinGen CA1700827
- ClinVar RCV000222331
- ClinVar RCV000766323
- Conflicting interpretations
- not provided; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.384
- REVEL 0.14
- CADD 14.60
- PolyPhen-2 0.00
- SIFT 0.22
- ClinVar: Conflicting classifications of pathogenicity (not provided; not specified)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the East Asian population (allele frequency 0.0012)
- Structural context available
- Cited in: Hereditary Distal Renal Tubular Acidosis. (PMID 31600044)