P90L (p.Pro90Leu) variant of NKX2-5 (Homeobox protein Nkx-2.5)
P90L (p.Pro90Leu) in NKX2-5 (Homeobox protein Nkx-2.5) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
P90L (p.Pro90Leu) variant details
- p.Pro90Leu
- gnomAD rs1169653363
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.441
- REVEL 0.23
- CADD 23.10
- PolyPhen-2 0.23
- SIFT 0.06
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- UniProt: Uncertain significance
- Most common in the HGDP:YAKUT population (allele frequency 0.04)
- Structural context available