F315L (p.Phe315Leu) variant of HNRNPA1 (P09651)
F315L (p.Phe315Leu) in HNRNPA1 (P09651) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Chronic progressive multiple sclerosis. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data and structural context.
F315L (p.Phe315Leu) variant details
- p.Phe315Leu
- rs554269174
- NCI-TCGA Cosmic COSV5293
- cosmic curated COSV52938
- 1000Genomes rs554269174
- Likely pathogenic
- Chronic progressive multiple sclerosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.561
- REVEL 0.53
- CADD 24.60
- PolyPhen-2 0.06
- SIFT 0.03
- ClinVar: Likely pathogenic (Chronic progressive multiple sclerosis)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the 1KG:GWD population (allele frequency 0.0043)
- Structural context available