I49L (p.Ile49Leu) variant of TMC1 (Q8TDI8)
I49L (p.Ile49Leu) in TMC1 (Q8TDI8) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases; not specified; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
I49L (p.Ile49Leu) variant details
- p.Ile49Leu
- rs149947445
- ClinGen CA142057
- ClinVar RCV000041131
- ClinVar RCV001166569
- Uncertain significance
- Inborn genetic diseases; not specified; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.258
- REVEL 0.08
- ESM-1b 0.00
- AlphaMissense 0.13
- CADD 19.00
- PolyPhen-2 0.01
- SIFT 0.67
- ClinVar: Uncertain significance (Inborn genetic diseases; not specified; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available
- Cited in: Genetic Hearing Loss Overview. (PMID 20301607)
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)