P21L (p.Pro21Leu) variant of COL5A1 (Collagen alpha-1(V) chain)
P21L (p.Pro21Leu) in COL5A1 (Collagen alpha-1(V) 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 0.25 / 1. The record also includes population frequency data and structural context.
P21L (p.Pro21Leu) variant details
- p.Pro21Leu
- rs2132454969
- ClinGen CA375443914
- ClinVar RCV001508646
- Ensembl rs2132454969
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.247
- REVEL 0.22
- CADD 13.80
- PolyPhen-2 0.00
- SIFT 0.66
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.1e-06)
- Structural context available