A21T (p.Ala21Thr) variant of LAMC2 (Laminin subunit gamma-2)
A21T (p.Ala21Thr) in LAMC2 (Laminin subunit gamma-2) is a missense change. 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.
A21T (p.Ala21Thr) variant details
- p.Ala21Thr
- Ensembl rs2102154744
- Missense
- Variant Prioritization Score for Impact Estimate 0.333
- REVEL 0.16
- CADD 23.70
- PolyPhen-2 0.15
- SIFT 0.02
- Most common in the 1KG:MXL population (allele frequency 0.0081)
- Structural context available