P44P (p.Pro44Pro) variant of COL6A2 (Collagen alpha-2(VI) chain)
P44P (p.Pro44Pro) in COL6A2 (Collagen alpha-2(VI) chain) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data, published literature, and structural context.
P44P (p.Pro44Pro) variant details
- p.Pro44Pro
- rs2123614144
- gnomAD 21-46111995-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.097
- CADD 2.31
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- Structural context available
- Literature evidence available