A74S (p.Ala74Ser) variant of GATA5 (Transcription factor GATA-5)
A74S (p.Ala74Ser) in GATA5 (Transcription factor GATA-5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
A74S (p.Ala74Ser) variant details
- p.Ala74Ser
- Ensembl rs1601520660
- Missense
- Variant Prioritization Score for Impact Estimate 0.241
- REVEL 0.16
- MetaLR 0.76
- MetaSVM 0.05
- CADD 7.67
- PolyPhen-2 0.03
- SIFT 0.86
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available