P96L (p.Pro96Leu) variant of COL11A1 (Collagen alpha-1(XI) chain)
P96L (p.Pro96Leu) in COL11A1 (Collagen alpha-1(XI) chain) 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.
P96L (p.Pro96Leu) variant details
- p.Pro96Leu
- rs757021843
- ClinGen CA975486
- ClinVar RCV004527192
- ExAC rs757021843
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.653
- REVEL 0.49
- ESM-1b 1.00
- AlphaMissense 0.42
- CADD 29.20
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.3e-05)
- Structural context available