A21T (p.Ala21Thr) variant of OTOF (Otoferlin)
A21T (p.Ala21Thr) in OTOF (Otoferlin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Autosomal recessive nonsyndromic hearing loss 9; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
A21T (p.Ala21Thr) variant details
- p.Ala21Thr
- rs778670384
- ClinGen CA1564838
- cosmic curated COSV55504
- ClinVar RCV000785040
- Uncertain significance
- Autosomal recessive nonsyndromic hearing loss 9; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.444
- REVEL 0.32
- CADD 24.50
- PolyPhen-2 0.99
- SIFT 0.06
- ClinVar: Uncertain significance (Autosomal recessive nonsyndromic hearing loss 9; Inborn genetic)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available
- Cited in: OTOF-Related Hearing Loss. (PMID 20301429)
- Cited in: Genetic Hearing Loss Overview. (PMID 20301607)