A53T (p.Ala53Thr) variant of OTOF (Otoferlin)
A53T (p.Ala53Thr) in OTOF (Otoferlin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign/likely benign in the context of not provided; not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
A53T (p.Ala53Thr) variant details
- p.Ala53Thr
- rs144915302
- ClinGen CA142750
- cosmic curated COSV10455
- ClinVar RCV000041464
- Benign/Likely benign
- not provided; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.299
- REVEL 0.06
- CADD 22.40
- PolyPhen-2 0.18
- SIFT 0.05
- ClinVar: Benign/Likely benign (not provided; not specified)
- EBI: Pathogenic (in dbSNP:rs1879761)
- UniProt: Pathogenic (in dbSNP:rs1879761)
- Most common in the HGDP:SHE population (allele frequency 0.056)
- Structural context available