H24Q (p.His24Gln) variant of GATA5 (Transcription factor GATA-5)
H24Q (p.His24Gln) in GATA5 (Transcription factor GATA-5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data and structural context.
H24Q (p.His24Gln) variant details
- p.His24Gln
- gnomAD rs1989835497
- Missense
- Variant Prioritization Score for Impact Estimate 0.528
- REVEL 0.53
- MetaLR 0.97
- MetaSVM 1.11
- CADD 24.70
- PolyPhen-2 0.74
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available