S11N (p.Ser11Asn) variant of IFT172 (Q9UG01)
S11N (p.Ser11Asn) in IFT172 (Q9UG01) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
S11N (p.Ser11Asn) variant details
- p.Ser11Asn
- cosmic curated COSV10806
- gnomAD rs1252190644
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.252
- REVEL 0.09
- CADD 21.90
- PolyPhen-2 0.08
- SIFT 0.15
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)
- Structural context available