P18S (p.Pro18Ser) variant of LAMA3 (Laminin subunit alpha-3)
P18S (p.Pro18Ser) 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, published literature, and structural context.
P18S (p.Pro18Ser) variant details
- p.Pro18Ser
- gnomAD 18-23689735-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.125
- REVEL 0.04
- CADD 13.40
- PolyPhen-2 0.02
- SIFT 0.53
- Most common in the African/African-American population (allele frequency 0.00031)
- Structural context available
- Literature evidence available