L22F (p.Leu22Phe) variant of LAMA3 (Laminin subunit alpha-3)
L22F (p.Leu22Phe) in LAMA3 (Laminin subunit alpha-3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data and structural context.
L22F (p.Leu22Phe) variant details
- p.Leu22Phe
- Ensembl rs2060542743
- Missense
- Variant Prioritization Score for Impact Estimate 0.182
- REVEL 0.04
- CADD 15.40
- PolyPhen-2 0.10
- SIFT 0.11
- Most common in the 1KG:MXL population (allele frequency 0.0081)
- Structural context available