P82L (p.Pro82Leu) variant of GATA5 (Transcription factor GATA-5)
P82L (p.Pro82Leu) in GATA5 (Transcription factor GATA-5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data and structural context.
P82L (p.Pro82Leu) variant details
- p.Pro82Leu
- gnomAD rs1555897020
- Missense
- Variant Prioritization Score for Impact Estimate 0.497
- REVEL 0.41
- MetaLR 0.86
- MetaSVM 0.69
- CADD 25.90
- PolyPhen-2 0.52
- SIFT 0.02
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available