M1L (p.Met1Leu) variant of SIX1 (Homeobox protein SIX1)
M1L (p.Met1Leu) in SIX1 (Homeobox protein SIX1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Branchiootic syndrome 3; Autosomal dominant nonsyndromic hearing loss 23. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes experimental measurements, published literature, and structural context.
M1L (p.Met1Leu) variant details
- p.Met1Leu
- rs1895013419
- ClinGen CA389911261
- ClinVar RCV001262831
- ClinVar RCV003992483
- Conflicting interpretations
- Branchiootic syndrome 3; Autosomal dominant nonsyndromic hearing loss 23
- Missense
- Variant Prioritization Score for Impact Estimate 0.434
- MetaLR 0.49
- MetaSVM -0.20
- PolyPhen-2 0.03
- SIFT 0.06
- MutPred 0.99
- ClinVar: Conflicting classifications of pathogenicity (Branchiootic syndrome 3; Autosomal dominant nonsyndromic hearing)
- EBI: Benign
- UniProt: Benign
- Structural context available
- SIX1 Homeobox domain domainome 1.0: score -0.0501
- Cited in: Genetic Hearing Loss Overview. (PMID 20301607)
- Cited in: Branchiootorenal Spectrum Disorder. (PMID 20301554)