L26V (p.Leu26Val) variant of COL5A1 (Collagen alpha-1(V) chain)
L26V (p.Leu26Val) in COL5A1 (Collagen alpha-1(V) chain) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
L26V (p.Leu26Val) variant details
- p.Leu26Val
- TOPMed rs1254852661
- gnomAD rs1254852661
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.303
- REVEL 0.23
- CADD 19.20
- PolyPhen-2 0.00
- SIFT 0.31
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the African/African-American population (allele frequency 9.1e-05)
- Structural context available