K7N (p.Lys7Asn) variant of EPAS1 (Q99814)
K7N (p.Lys7Asn) in EPAS1 (Q99814) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
K7N (p.Lys7Asn) variant details
- p.Lys7Asn
- gnomAD 2-46297932-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.264
- REVEL 0.15
- CADD 24.70
- PolyPhen-2 1.00
- SIFT 0.05
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available
- Literature evidence available