T2109I (p.Thr2109Ile) variant of MYO7A (Unconventional myosin-VIIa)
T2109I (p.Thr2109Ile) in MYO7A (Unconventional myosin-VIIa) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Usher syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data and structural context.
T2109I (p.Thr2109Ile) variant details
- p.Thr2109Ile
- rs377670513
- ClinGen CA278724
- ClinVar RCV000151522
- ClinVar RCV000591925
- Likely pathogenic
- Usher syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.806
- REVEL 0.82
- CADD 26.10
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Likely pathogenic (Usher syndrome)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available