A10T (p.Ala10Thr) variant of TRMU (O75648)
A10T (p.Ala10Thr) in TRMU (O75648) is a missense change. Clinical records from EBI and UniProt describe it as benign in the context of acts as a disease modifier in patients with aminoglycoside-induced deafness and. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data and structural context.
A10T (p.Ala10Thr) variant details
- p.Ala10Thr
- 1000Genomes rs11090865
- ESP rs11090865
- ExAC rs11090865
- TOPMed rs11090865
- Benign
- acts as a disease modifier in patients with aminoglycoside-induced deafness and
- Missense
- Variant Prioritization Score for Impact Estimate 0.79
- REVEL 0.75
- ESM-1b 1.00
- AlphaMissense 0.79
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.01
- EBI: Benign (acts as a disease modifier in patients with aminoglycoside-induc)
- UniProt: Benign (acts as a disease modifier in patients with aminoglycoside-induc)
- Most common in the HGDP:MBUTI population (allele frequency 0.042)
- Structural context available