R35L (p.Arg35Leu) variant of ISCA2 (Iron-sulfur cluster assembly 2 homolog, mitochondrial)
R35L (p.Arg35Leu) in ISCA2 (Iron-sulfur cluster assembly 2 homolog, mitochondrial) 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 0.10 / 1. The record also includes population frequency data and structural context.
R35L (p.Arg35Leu) variant details
- p.Arg35Leu
- cosmic curated COSV53142
- gnomAD rs1336080975
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.0999
- REVEL 0.04
- CADD 16.70
- PolyPhen-2 0.00
- SIFT 0.20
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available