P20Q (p.Pro20Gln) variant of LAMA3 (Laminin subunit alpha-3)
P20Q (p.Pro20Gln) in LAMA3 (Laminin subunit alpha-3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data and structural context.
P20Q (p.Pro20Gln) variant details
- p.Pro20Gln
- TOPMed rs2060542611
- gnomAD rs2060542611
- Missense
- Variant Prioritization Score for Impact Estimate 0.0808
- REVEL 0.01
- CADD 5.08
- PolyPhen-2 0.13
- SIFT 0.60
- Most common in the East Asian population (allele frequency 0.00015)
- Structural context available