K7R (p.Lys7Arg) variant of EPAS1 (Q99814)
K7R (p.Lys7Arg) in EPAS1 (Q99814) is a missense change. Clinical records from ClinVar 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 0.32 / 1. The record also includes population frequency data and structural context.
K7R (p.Lys7Arg) variant details
- p.Lys7Arg
- rs1191268483
- NCI-TCGA Cosmic COSV5538
- TOPMed rs1191268483
- gnomAD rs1191268483
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.315
- REVEL 0.08
- MetaLR 0.13
- MetaSVM -1.04
- CADD 31.00
- PolyPhen-2 0.99
- SIFT 0.56
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available