P38L (p.Pro38Leu) variant of COL11A1 (Collagen alpha-1(XI) chain)
P38L (p.Pro38Leu) in COL11A1 (Collagen alpha-1(XI) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data and structural context.
P38L (p.Pro38Leu) variant details
- p.Pro38Leu
- rs781586633
- ClinGen CA975550
- ClinVar RCV003822387
- ExAC rs781586633
- Likely benign
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.591
- REVEL 0.44
- ESM-1b 1.00
- AlphaMissense 0.18
- CADD 25.10
- PolyPhen-2 0.12
- SIFT 0.02
- ClinVar: Likely benign (not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 4.4e-05)
- Structural context available