T54R (p.Thr54Arg) variant of MYO7A (Unconventional myosin-VIIa)
T54R (p.Thr54Arg) in MYO7A (Unconventional myosin-VIIa) 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 0.22 / 1. The record also includes population frequency data and structural context.
T54R (p.Thr54Arg) variant details
- p.Thr54Arg
- rs782568869
- ClinGen CA381928699
- ClinVar RCV001899321
- ExAC rs782568869
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.217
- REVEL 0.14
- CADD 17.10
- PolyPhen-2 0.00
- SIFT 0.24
- 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