M1I (p.Met1Ile) variant of ALMS1 (Q8TCU4)
M1I (p.Met1Ile) in ALMS1 (Q8TCU4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Hearing impairment. The record also includes variant effect predictions.
M1I (p.Met1Ile) variant details
- p.Met1Ile
- rs2104056063
- ClinGen CA347250325
- ClinVar RCV001375251
- Likely pathogenic
- Hearing impairment
- Missense
- MetaLR 0.12
- MetaSVM -0.95
- PolyPhen-2 1.00
- MutPred 0.99
- ClinVar: Likely pathogenic (Hearing impairment)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic