S169N (p.Ser169Asn) variant of FERMT1 (Fermitin family homolog 1)
S169N (p.Ser169Asn) in FERMT1 (Fermitin family homolog 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data and structural context.
S169N (p.Ser169Asn) variant details
- p.Ser169Asn
- gnomAD rs1346874528
- Missense
- Variant Prioritization Score for Impact Estimate 0.161
- REVEL 0.06
- CADD 12.00
- PolyPhen-2 0.00
- SIFT 0.61
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- Structural context available