T38I (p.Thr38Ile) variant of LAMB3 (Laminin subunit beta-3)
T38I (p.Thr38Ile) in LAMB3 (Laminin subunit beta-3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
T38I (p.Thr38Ile) variant details
- p.Thr38Ile
- cosmic curated COSV61915
- gnomAD rs1220277494
- Missense
- Variant Prioritization Score for Impact Estimate 0.489
- REVEL 0.33
- CADD 22.20
- PolyPhen-2 0.22
- SIFT 0.17
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- Structural context available