L41F (p.Leu41Phe) variant of LAMB3 (Laminin subunit beta-3)
L41F (p.Leu41Phe) in LAMB3 (Laminin subunit beta-3) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data and structural context.
L41F (p.Leu41Phe) variant details
- p.Leu41Phe
- NCI-TCGA Cosmic COSV1006
- cosmic curated COSV10062
- Ensembl rs2076551464
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.735
- REVEL 0.72
- CADD 26.00
- PolyPhen-2 1.00
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available