R12S (p.Arg12Ser) variant of GATA5 (Transcription factor GATA-5)
R12S (p.Arg12Ser) in GATA5 (Transcription factor GATA-5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
R12S (p.Arg12Ser) variant details
- p.Arg12Ser
- TOPMed rs1989837869
- Missense
- Variant Prioritization Score for Impact Estimate 0.251
- REVEL 0.25
- MetaLR 0.59
- MetaSVM -0.10
- CADD 4.30
- PolyPhen-2 0.00
- SIFT 0.54
- Most common in the African/African-American population (allele frequency 0.00041)
- Structural context available