F32V (p.Phe32Val) variant of IDH1 (O75874)
F32V (p.Phe32Val) in IDH1 (O75874) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
F32V (p.Phe32Val) variant details
- p.Phe32Val
- rs142923780
- ClinGen CA160028
- cosmic curated COSV61618
- ClinVar RCV000121202
- Likely benign
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.327
- REVEL 0.31
- CADD 23.70
- PolyPhen-2 0.16
- SIFT 0.04
- ClinVar: Likely benign (not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 2.3e-05)
- Structural context available