P41S (p.Pro41Ser) variant of ABCC6 (O95255)
P41S (p.Pro41Ser) in ABCC6 (O95255) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data and structural context.
P41S (p.Pro41Ser) variant details
- p.Pro41Ser
- rs753761990
- ClinVar RCV004575104
- NCI-TCGA TCGA novel
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.198
- REVEL 0.09
- CADD 19.60
- PolyPhen-2 0.02
- SIFT 0.19
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available