P18A (p.Pro18Ala) variant of LAMA3 (Laminin subunit alpha-3)
P18A (p.Pro18Ala) in LAMA3 (Laminin subunit alpha-3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data and structural context.
P18A (p.Pro18Ala) variant details
- p.Pro18Ala
- TOPMed rs1009802661
- gnomAD rs1009802661
- Missense
- Variant Prioritization Score for Impact Estimate 0.124
- REVEL 0.07
- CADD 8.17
- PolyPhen-2 0.01
- SIFT 1.00
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- Structural context available