L105I (p.Leu105Ile) variant of MYH6 (Myosin-6)
L105I (p.Leu105Ile) in MYH6 (Myosin-6) is a missense change. Clinical records from ClinVar 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 0.75 / 1. The record also includes population frequency data and structural context.
L105I (p.Leu105Ile) variant details
- p.Leu105Ile
- rs750029272
- NCI-TCGA Cosmic COSV6244
- NCI-TCGA Cosmic COSV6245
- cosmic curated COSV62454
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.753
- REVEL 0.74
- CADD 25.90
- PolyPhen-2 0.91
- SIFT 0.01
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available