P3L (p.Pro3Leu) variant of COL11A1 (Collagen alpha-1(XI) chain)
P3L (p.Pro3Leu) in COL11A1 (Collagen alpha-1(XI) chain) 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 0.19 / 1. The record also includes population frequency data and structural context.
P3L (p.Pro3Leu) variant details
- p.Pro3Leu
- rs754339349
- NCI-TCGA Cosmic COSV6220
- cosmic curated COSV62200
- ExAC rs754339349
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.187
- REVEL 0.06
- ESM-1b 0.00
- AlphaMissense 0.12
- CADD 21.90
- PolyPhen-2 0.00
- SIFT 0.16
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available