T44I (p.Thr44Ile) variant of MYO15A (Unconventional myosin-XV)
T44I (p.Thr44Ile) in MYO15A (Unconventional myosin-XV) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
T44I (p.Thr44Ile) variant details
- p.Thr44Ile
- gnomAD rs1443856458
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.415
- REVEL 0.39
- ESM-1b 0.00
- AlphaMissense 0.71
- CADD 22.90
- PolyPhen-2 0.69
- SIFT 0.04
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available