S38A (p.Ser38Ala) variant of KRT5 (Keratin, type II cytoskeletal 5)
S38A (p.Ser38Ala) in KRT5 (Keratin, type II cytoskeletal 5) is a missense change. Clinical records from ClinVar and UniProt describe it as likely benign in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data and structural context.
S38A (p.Ser38Ala) variant details
- p.Ser38Ala
- 1000Genomes rs541279700
- ExAC rs541279700
- TOPMed rs541279700
- gnomAD rs541279700
- Likely benign
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.184
- REVEL 0.07
- CADD 19.20
- PolyPhen-2 0.00
- SIFT 0.27
- ClinVar: Likely benign (not provided)
- UniProt: Likely benign
- Most common in the HGDP:BASQUE population (allele frequency 0.023)
- Structural context available