S30P (p.Ser30Pro) variant of GATA5 (Transcription factor GATA-5)
S30P (p.Ser30Pro) 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 0.58 / 1. The record also includes population frequency data and structural context.
S30P (p.Ser30Pro) variant details
- p.Ser30Pro
- rs2516447518
- ClinGen CA409557908
- ClinVar RCV003053953
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.585
- REVEL 0.55
- MetaLR 0.92
- MetaSVM 0.81
- CADD 22.80
- PolyPhen-2 0.05
- SIFT 0.06
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- Structural context available