T54A (p.Thr54Ala) variant of MYO7A (Unconventional myosin-VIIa)
T54A (p.Thr54Ala) in MYO7A (Unconventional myosin-VIIa) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Usher syndrome type 1; Autosomal dominant nonsyndromic hearing loss 11; not prov. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data, published literature, and structural context.
T54A (p.Thr54Ala) variant details
- p.Thr54Ala
- rs369142107
- ClinGen CA6197062
- ClinVar RCV000298034
- ClinVar RCV000355269
- Conflicting interpretations
- Usher syndrome type 1; Autosomal dominant nonsyndromic hearing loss 11; not prov
- Missense
- Variant Prioritization Score for Impact Estimate 0.192
- REVEL 0.08
- CADD 19.60
- PolyPhen-2 0.00
- SIFT 0.57
- ClinVar: Conflicting classifications of pathogenicity (Usher syndrome type 1; Autosomal dominant nonsyndromic hearing l)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:KHV population (allele frequency 0.0099)
- Structural context available
- Cited in: Genetic Hearing Loss Overview. (PMID 20301607)
- Cited in: Cone rod dystrophies. (PMID 17270046)