P71S (p.Pro71Ser) variant of COL4A5 (Collagen alpha-5(IV) chain)
P71S (p.Pro71Ser) in COL4A5 (Collagen alpha-5(IV) chain) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data and structural context.
P71S (p.Pro71Ser) variant details
- p.Pro71Ser
- NCI-TCGA Cosmic COSV1000
- cosmic curated COSV10008
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.645
- REVEL 0.60
- MetaLR 0.90
- MetaSVM 0.93
- CADD 22.20
- PolyPhen-2 0.71
- SIFT 0.55
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available