P71S (p.Pro71Ser) variant of COL1A2 (Collagen alpha-2(I) chain)
P71S (p.Pro71Ser) in COL1A2 (Collagen alpha-2(I) 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 0.63 / 1. The record also includes population frequency data and structural context.
P71S (p.Pro71Ser) variant details
- p.Pro71Ser
- rs775240284
- ClinGen CA4346552
- ClinVar RCV003334293
- ExAC rs775240284
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.634
- REVEL 0.60
- CADD 24.50
- PolyPhen-2 1.00
- SIFT 0.10
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available