I108V (p.Ile108Val) variant of ETFA (P13804)
I108V (p.Ile108Val) in ETFA (P13804) 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 0.39 / 1. The record also includes population frequency data and structural context.
I108V (p.Ile108Val) variant details
- p.Ile108Val
- rs759821353
- ClinGen CA7673799
- ClinVar RCV002461822
- ClinVar RCV005616407
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.387
- REVEL 0.32
- ESM-1b 0.00
- AlphaMissense 0.17
- CADD 21.70
- PolyPhen-2 0.10
- SIFT 0.39
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.2e-05)
- Structural context available