P14Q (p.Pro14Gln) variant of LAMA3 (Laminin subunit alpha-3)
P14Q (p.Pro14Gln) in LAMA3 (Laminin subunit alpha-3) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
P14Q (p.Pro14Gln) variant details
- p.Pro14Gln
- gnomAD 18-23689718-TG-T
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.199
- CADD 16.70
- Population evidence available
- Structural context available
- Literature evidence available