P10T (p.Pro10Thr) variant of COL5A2 (Collagen alpha-2(V) chain)
P10T (p.Pro10Thr) in COL5A2 (Collagen alpha-2(V) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Ehlers-Danlos syndrome, classic type, 2; Ehlers-Danlos syndrome, classic type. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
P10T (p.Pro10Thr) variant details
- p.Pro10Thr
- rs1457897938
- ClinGen CA349986308
- ClinVar RCV001280965
- ClinVar RCV003224542
- Uncertain significance
- Ehlers-Danlos syndrome, classic type, 2; Ehlers-Danlos syndrome, classic type
- Missense
- Variant Prioritization Score for Impact Estimate 0.315
- REVEL 0.19
- CADD 18.30
- PolyPhen-2 0.00
- SIFT 0.67
- ClinVar: Uncertain significance (Ehlers-Danlos syndrome, classic type, 2; Ehlers-Danlos syndrome,)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.3e-05)
- Structural context available
- Cited in: Classic Ehlers-Danlos Syndrome. (PMID 20301422)