A68V (p.Ala68Val) variant of GATA5 (Transcription factor GATA-5)
A68V (p.Ala68Val) in GATA5 (Transcription factor GATA-5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
A68V (p.Ala68Val) variant details
- p.Ala68Val
- gnomAD rs1555897027
- Missense
- Variant Prioritization Score for Impact Estimate 0.451
- REVEL 0.35
- MetaLR 0.82
- MetaSVM 0.48
- CADD 22.10
- PolyPhen-2 0.47
- SIFT 0.04
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available