P6S (p.Pro6Ser) variant of ID3 (Q02535)
P6S (p.Pro6Ser) in ID3 (Q02535) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data and structural context.
P6S (p.Pro6Ser) variant details
- p.Pro6Ser
- rs2523158699
- ClinGen CA338991780
- ClinVar RCV004355915
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.653
- REVEL 0.63
- MetaLR 0.53
- MetaSVM -0.14
- CADD 25.40
- PolyPhen-2 1.00
- SIFT 0.07
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available