R12L (p.Arg12Leu) variant of GATA5 (Transcription factor GATA-5)
R12L (p.Arg12Leu) in GATA5 (Transcription factor GATA-5) 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 0.41 / 1. The record also includes population frequency data and structural context.
R12L (p.Arg12Leu) variant details
- p.Arg12Leu
- rs782050292
- ClinGen CA409558024
- ClinVar RCV002886059
- ExAC rs782050292
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.413
- REVEL 0.34
- MetaLR 0.76
- MetaSVM 0.19
- CADD 21.70
- PolyPhen-2 0.00
- SIFT 0.04
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:YAKUT population (allele frequency 0.04)
- Structural context available