T9S (p.Thr9Ser) variant of COL2A1 (Collagen alpha-1(II) chain)
T9S (p.Thr9Ser) in COL2A1 (Collagen alpha-1(II) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign in the context of not specified; not provided; Type 2 collagenopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
T9S (p.Thr9Ser) variant details
- p.Thr9Ser
- rs3803183
- ClinGen CA147293
- cosmic curated COSV61527
- ClinVar RCV000079725
- Benign
- not specified; not provided; Type 2 collagenopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.272
- REVEL 0.21
- CADD 18.40
- PolyPhen-2 0.00
- SIFT 0.18
- ClinVar: Benign (not specified; not provided; Type 2 collagenopathy)
- EBI: Benign (in dbSNP:rs3803183)
- UniProt: Benign (in dbSNP:rs3803183)
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available
- Cited in: Natural variation in four human collagen genes across an ethnically diverse population. (PMID 18272325)
- Cited in: The human type II procollagen gene: identification of an additional protein-coding domain and location of potential… (PMID 2081599)