T22I (p.Thr22Ile) variant of LAMC2 (Laminin subunit gamma-2)
T22I (p.Thr22Ile) in LAMC2 (Laminin subunit gamma-2) 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 0.19 / 1. The record also includes population frequency data and structural context.
T22I (p.Thr22Ile) variant details
- p.Thr22Ile
- NCI-TCGA Cosmic COSV5145
- cosmic curated COSV51458
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.19
- REVEL 0.04
- CADD 22.80
- PolyPhen-2 0.20
- SIFT 0.02
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)
- Structural context available