V36I (p.Val36Ile) variant of MYO7A (Unconventional myosin-VIIa)
V36I (p.Val36Ile) in MYO7A (Unconventional myosin-VIIa) 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 0.27 / 1. The record also includes population frequency data and structural context.
V36I (p.Val36Ile) variant details
- p.Val36Ile
- TOPMed rs1201506175
- gnomAD rs1201506175
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.267
- REVEL 0.22
- CADD 12.20
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available