P62T (p.Pro62Thr) variant of GATA5 (Transcription factor GATA-5)
P62T (p.Pro62Thr) 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 0.49 / 1. The record also includes population frequency data and structural context.
P62T (p.Pro62Thr) variant details
- p.Pro62Thr
- rs2146490671
- ClinGen CA409557534
- ClinVar RCV001984407
- Ensembl rs2146490671
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.49
- REVEL 0.41
- MetaLR 0.86
- MetaSVM 0.45
- CADD 13.80
- PolyPhen-2 0.37
- SIFT 0.20
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available