V97I (p.Val97Ile) variant of XPA (P23025)
V97I (p.Val97Ile) in XPA (P23025) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign/likely benign in the context of Xeroderma pigmentosum group A; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
V97I (p.Val97Ile) variant details
- p.Val97Ile
- rs10983315
- ClinGen CA5148848
- ClinVar RCV000903901
- ClinVar RCV001168273
- Benign/Likely benign
- Xeroderma pigmentosum group A; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.345
- REVEL 0.14
- CADD 22.10
- PolyPhen-2 0.07
- SIFT 0.32
- ClinVar: Benign/Likely benign (Xeroderma pigmentosum group A; not provided)
- EBI: Benign (in dbSNP:rs10983315)
- UniProt: Benign (in dbSNP:rs10983315)
- Most common in the HGDP:YAKUT population (allele frequency 0.04)
- Structural context available
- Cited in: Xeroderma Pigmentosum. (PMID 20301571)