S29F (p.Ser29Phe) variant of ISCA2 (Iron-sulfur cluster assembly 2 homolog, mitochondrial)
S29F (p.Ser29Phe) 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 0.12 / 1. The record also includes population frequency data and structural context.
S29F (p.Ser29Phe) variant details
- p.Ser29Phe
- cosmic curated COSV10499
- Ensembl rs2086814618
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.119
- REVEL 0.03
- CADD 13.60
- PolyPhen-2 0.00
- SIFT 0.18
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available