P917L (p.Pro917Leu) variant of COL2A1 (Collagen alpha-1(II) chain)
P917L (p.Pro917Leu) in COL2A1 (Collagen alpha-1(II) chain) is a missense change. Clinical records from ClinVar and UniProt describe it as likely pathogenic in the context of Kniest dysplasia; Spondyloepiphyseal dysplasia, Stanescu type; Spondyloepiphysea. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data and structural context.
P917L (p.Pro917Leu) variant details
- p.Pro917Leu
- 1000Genomes rs529306283
- ExAC rs529306283
- gnomAD rs529306283
- Likely pathogenic
- Kniest dysplasia; Spondyloepiphyseal dysplasia, Stanescu type; Spondyloepiphysea
- Missense
- Variant Prioritization Score for Impact Estimate 0.616
- REVEL 0.53
- CADD 25.00
- PolyPhen-2 0.06
- SIFT 0.01
- ClinVar: Likely pathogenic (Kniest dysplasia; Spondyloepiphyseal dysplasia, Stanescu type; S)
- UniProt: Likely pathogenic
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- Structural context available