P1987R (p.Pro1987Arg) variant of OTOF (Otoferlin)
P1987R (p.Pro1987Arg) in OTOF (Otoferlin) is a missense change. The available record places it in the context of Autosomal recessive nonsyndromic hearing loss 9. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data, published literature, and structural context.
P1987R (p.Pro1987Arg) variant details
- p.Pro1987Arg
- rs80356606
- ClinGen CA342580
- ClinVar RCV000021075
- UniProt VAR 032242
- not provided
- Autosomal recessive nonsyndromic hearing loss 9
- Missense
- Variant Prioritization Score for Impact Estimate 0.854
- REVEL 0.94
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: not provided (Autosomal recessive nonsyndromic hearing loss 9)
- EBI: Pathogenic (in AUNB1)
- UniProt: Pathogenic (in AUNB1)
- Population evidence available
- Structural context available
- Cited in: OTOF mutations revealed by genetic analysis of hearing loss families including a potential temperature sensitive… (PMID 16371502)
- Cited in: A multicenter study on the prevalence and spectrum of mutations in the otoferlin gene (OTOF) in subjects with… (PMID 18381613)