P38S (p.Pro38Ser) variant of COL11A1 (Collagen alpha-1(XI) chain)
P38S (p.Pro38Ser) 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 provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
P38S (p.Pro38Ser) variant details
- p.Pro38Ser
- rs2526238703
- ClinGen CA341168936
- ClinVar RCV002851461
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.369
- REVEL 0.25
- ESM-1b 0.24
- AlphaMissense 0.11
- CADD 23.50
- PolyPhen-2 0.12
- SIFT 0.04
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available