A53V (p.Ala53Val) variant of OTOF (Otoferlin)
A53V (p.Ala53Val) 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 specified; not provided; Autosomal recessive nonsyndromic hearing loss 9. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
A53V (p.Ala53Val) variant details
- p.Ala53Val
- rs1879761
- ClinGen CA142752
- cosmic curated COSV55503
- ClinVar RCV000021036
- Benign/Likely benign
- not specified; not provided; Autosomal recessive nonsyndromic hearing loss 9
- Missense
- Variant Prioritization Score for Impact Estimate 0.243
- REVEL 0.11
- CADD 22.90
- PolyPhen-2 0.20
- SIFT 0.04
- ClinVar: Benign/Likely benign (not specified; not provided; Autosomal recessive nonsyndromic he)
- EBI: Benign (in dbSNP:rs1879761)
- UniProt: Benign (in dbSNP:rs1879761)
- Most common in the HGDP:COLOMBIAN population (allele frequency 1)
- Structural context available
- Cited in: OTOF mutations revealed by genetic analysis of hearing loss families including a potential temperature sensitive… (PMID 16371502)
- Cited in: OTOF-Related Hearing Loss. (PMID 20301429)