P18T (p.Pro18Thr) variant of LAMA3 (Laminin subunit alpha-3)
P18T (p.Pro18Thr) in LAMA3 (Laminin subunit alpha-3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data, published literature, and structural context.
P18T (p.Pro18Thr) variant details
- p.Pro18Thr
- gnomAD 18-23689735-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.132
- REVEL 0.06
- CADD 14.30
- PolyPhen-2 0.01
- SIFT 0.22
- Most common in the African/African-American population (allele frequency 0.00041)
- Structural context available
- Literature evidence available