T1841R (p.Thr1841Arg) variant of MYO7A (Unconventional myosin-VIIa)
T1841R (p.Thr1841Arg) in MYO7A (Unconventional myosin-VIIa) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Hearing loss, autosomal recessive; Deafness. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data, published literature, and structural context.
T1841R (p.Thr1841Arg) variant details
- p.Thr1841Arg
- rs746667217
- ClinGen CA381952926
- ClinVar RCV000679821
- ClinVar RCV001291103
- Pathogenic/Likely pathogenic
- Hearing loss, autosomal recessive; Deafness
- Missense
- Variant Prioritization Score for Impact Estimate 0.858
- REVEL 0.91
- CADD 26.50
- PolyPhen-2 0.92
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Hearing loss, autosomal recessive; Deafness)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Cited in: Genetic Hearing Loss Overview. (PMID 20301607)