A21V (p.Ala21Val) variant of OTOF (Otoferlin)
A21V (p.Ala21Val) in OTOF (Otoferlin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign in the context of Autosomal recessive nonsyndromic hearing loss 9. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
A21V (p.Ala21Val) variant details
- p.Ala21Val
- rs2148144145
- ClinGen CA346106430
- ClinVar RCV001788855
- NCI-TCGA TCGA novel
- Benign
- Autosomal recessive nonsyndromic hearing loss 9
- Missense
- Variant Prioritization Score for Impact Estimate 0.43
- REVEL 0.18
- CADD 24.50
- PolyPhen-2 0.98
- SIFT 0.27
- ClinVar: Benign (Autosomal recessive nonsyndromic hearing loss 9)
- EBI: Benign
- UniProt: Benign
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available
- Cited in: OTOF-Related Hearing Loss. (PMID 20301429)
- Cited in: Genetic Hearing Loss Overview. (PMID 20301607)