R15I (p.Arg15Ile) variant of MYO7A (Unconventional myosin-VIIa)
R15I (p.Arg15Ile) in MYO7A (Unconventional myosin-VIIa) is a missense change. Clinical records from ClinVar, EBI, 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 0.34 / 1. The record also includes population frequency data and structural context.
R15I (p.Arg15Ile) variant details
- p.Arg15Ile
- rs1951301206
- ClinGen CA381947571
- ClinVar RCV001240192
- Ensembl rs1951301206
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.34
- REVEL 0.28
- CADD 21.20
- PolyPhen-2 0.28
- SIFT 0.26
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available