V119A (p.Val119Ala) variant of LAMB3 (Laminin subunit beta-3)
V119A (p.Val119Ala) in LAMB3 (Laminin subunit beta-3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data and structural context.
V119A (p.Val119Ala) variant details
- p.Val119Ala
- gnomAD rs1430765103
- Missense
- Variant Prioritization Score for Impact Estimate 0.555
- REVEL 0.53
- CADD 22.90
- PolyPhen-2 0.06
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 0.00031)
- Structural context available