K65N (p.Lys65Asn) variant of LAMB3 (Laminin subunit beta-3)
K65N (p.Lys65Asn) in LAMB3 (Laminin subunit beta-3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data and structural context.
K65N (p.Lys65Asn) variant details
- p.Lys65Asn
- gnomAD rs1431939630
- Missense
- Variant Prioritization Score for Impact Estimate 0.497
- REVEL 0.64
- CADD 24.10
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 0.00031)
- Structural context available