P30T (p.Pro30Thr) variant of LAMA3 (Laminin subunit alpha-3)
P30T (p.Pro30Thr) in LAMA3 (Laminin subunit alpha-3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data and structural context.
P30T (p.Pro30Thr) variant details
- p.Pro30Thr
- TOPMed rs1407288295
- gnomAD rs1407288295
- Missense
- Variant Prioritization Score for Impact Estimate 0.112
- REVEL 0.01
- CADD 15.00
- PolyPhen-2 0.09
- SIFT 0.38
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available