P111S (p.Pro111Ser) variant of ABCA3 (Q99758)
P111S (p.Pro111Ser) in ABCA3 (Q99758) 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.
P111S (p.Pro111Ser) variant details
- p.Pro111Ser
- NCI-TCGA Cosmic COSV1000
- cosmic curated COSV10006
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.327
- REVEL 0.14
- CADD 8.81
- PolyPhen-2 0.00
- SIFT 1.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the South Asian population (allele frequency 5.8e-05)
- Structural context available