P81R (p.Pro81Arg) variant of COL2A1 (Collagen alpha-1(II) chain)
P81R (p.Pro81Arg) in COL2A1 (Collagen alpha-1(II) 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 0.41 / 1. The record also includes population frequency data and structural context.
P81R (p.Pro81Arg) variant details
- p.Pro81Arg
- rs1940153785
- ClinGen CA384526000
- NCI-TCGA Cosmic COSV6153
- ClinVar RCV003680414
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.407
- REVEL 0.35
- CADD 23.60
- PolyPhen-2 0.35
- SIFT 0.02
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:YAKUT population (allele frequency 0.04)
- Structural context available