K87N (p.Lys87Asn) variant of FERMT1 (Fermitin family homolog 1)
K87N (p.Lys87Asn) in FERMT1 (Fermitin family homolog 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data and structural context.
K87N (p.Lys87Asn) variant details
- p.Lys87Asn
- Ensembl rs201299848
- Missense
- Variant Prioritization Score for Impact Estimate 0.133
- REVEL 0.03
- CADD 18.30
- PolyPhen-2 0.01
- SIFT 0.37
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available