T22P (p.Thr22Pro) variant of LAMC2 (Laminin subunit gamma-2)
T22P (p.Thr22Pro) in LAMC2 (Laminin subunit gamma-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data and structural context.
T22P (p.Thr22Pro) variant details
- p.Thr22Pro
- TOPMed rs1484118529
- gnomAD rs1484118529
- Missense
- Variant Prioritization Score for Impact Estimate 0.155
- REVEL 0.09
- CADD 23.90
- PolyPhen-2 0.20
- SIFT 0.00
- Most common in the HGDP:YAKUT population (allele frequency 0.04)
- Structural context available