P72L (p.Pro72Leu) variant of ABCA3 (Q99758)
P72L (p.Pro72Leu) 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 0.53 / 1. The record also includes population frequency data and structural context.
P72L (p.Pro72Leu) variant details
- p.Pro72Leu
- rs865833156
- NCI-TCGA Cosmic COSV5705
- cosmic curated COSV57053
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.527
- REVEL 0.49
- CADD 16.80
- PolyPhen-2 0.00
- SIFT 0.60
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available