L61S (p.Leu61Ser) variant of COL4A5 (Collagen alpha-5(IV) chain)
L61S (p.Leu61Ser) in COL4A5 (Collagen alpha-5(IV) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data, published literature, and structural context.
L61S (p.Leu61Ser) variant details
- p.Leu61Ser
- gnomAD X-108559104-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.581
- REVEL 0.59
- CADD 23.40
- PolyPhen-2 0.98
- SIFT 0.38
- Most common in the Non-Finnish European population (allele frequency 2.4e-06)
- Structural context available
- Literature evidence available