P7S (p.Pro7Ser) variant of FOXI1 (Forkhead box protein I1)
P7S (p.Pro7Ser) in FOXI1 (Forkhead box protein I1) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
P7S (p.Pro7Ser) variant details
- p.Pro7Ser
- rs1307118466
- NCI-TCGA Cosmic COSV6038
- cosmic curated COSV60388
- TOPMed rs1307118466
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.261
- REVEL 0.21
- CADD 16.50
- PolyPhen-2 0.05
- SIFT 0.66
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- Structural context available