P62R (p.Pro62Arg) variant of GATA5 (Transcription factor GATA-5)
P62R (p.Pro62Arg) 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.
P62R (p.Pro62Arg) variant details
- p.Pro62Arg
- TOPMed rs1332879789
- gnomAD rs1332879789
- Missense
- Variant Prioritization Score for Impact Estimate 0.531
- REVEL 0.46
- MetaLR 0.93
- MetaSVM 0.72
- CADD 22.00
- PolyPhen-2 0.63
- SIFT 0.06
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- Structural context available