S107F (p.Ser107Phe) variant of LAMP2 (P13473)
S107F (p.Ser107Phe) in LAMP2 (P13473) 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 0.20 / 1. The record also includes population frequency data.
S107F (p.Ser107Phe) variant details
- p.Ser107Phe
- NCI-TCGA Cosmic COSV5235
- cosmic curated COSV52352
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.202
- REVEL 0.12
- CADD 23.30
- PolyPhen-2 0.72
- SIFT 0.01
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Latino/Admixed American population (allele frequency 2.8e-05)