P73L (p.Pro73Leu) variant of ABCA3 (Q99758)
P73L (p.Pro73Leu) 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 0.40 / 1. The record also includes population frequency data and structural context.
P73L (p.Pro73Leu) variant details
- p.Pro73Leu
- rs779862368
- NCI-TCGA Cosmic COSV5705
- cosmic curated COSV57050
- ExAC rs779862368
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.403
- REVEL 0.47
- CADD 22.20
- PolyPhen-2 0.01
- SIFT 0.26
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the East Asian population (allele frequency 0.00023)
- Structural context available