A36S (p.Ala36Ser) variant of LAMA3 (Laminin subunit alpha-3)
A36S (p.Ala36Ser) in LAMA3 (Laminin subunit alpha-3) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
A36S (p.Ala36Ser) variant details
- p.Ala36Ser
- NCI-TCGA Cosmic COSV1005
- cosmic curated COSV10055
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.331
- REVEL 0.02
- CADD 22.40
- PolyPhen-2 0.46
- SIFT 0.14
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the 1KG:MXL population (allele frequency 0.0081)
- Structural context available