I164N (p.Ile164Asn) variant of FERMT1 (Fermitin family homolog 1)
I164N (p.Ile164Asn) in FERMT1 (Fermitin family homolog 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
I164N (p.Ile164Asn) variant details
- p.Ile164Asn
- gnomAD rs1277865576
- Missense
- Variant Prioritization Score for Impact Estimate 0.295
- REVEL 0.07
- CADD 22.50
- PolyPhen-2 0.03
- SIFT 0.47
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available