R100S (p.Arg100Ser) variant of FERMT1 (Fermitin family homolog 1)
R100S (p.Arg100Ser) in FERMT1 (Fermitin family homolog 1) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance in the context of in KNDLRS. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
R100S (p.Arg100Ser) variant details
- p.Arg100Ser
- TOPMed rs914756695
- gnomAD rs914756695
- Uncertain significance
- in KNDLRS
- Missense
- Variant Prioritization Score for Impact Estimate 0.3
- REVEL 0.08
- CADD 24.80
- PolyPhen-2 0.54
- SIFT 0.04
- EBI: Variant of uncertain significance (in KNDLRS)
- UniProt: Uncertain significance (in KNDLRS)
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- Structural context available